Congenital glaucoma
HaithamAlMahrouqi
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Apr 21, 2018
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About This Presentation
Describing congenital and childhood glaucomas with emphasis on histology.
Slide Content
CONGENITAL GLAUCOMA
Haitham Al Mahrouqi
Dec 2017
Haitham Al Mahrouqi
Dec 2017
PAEDIATRIC GLAUCOMA
➤Definition:
Paediatric glaucomas are a heterogeneous group of diseases
that may result from an isolated congenital abnormality of
the aqueous outflow pathways (primary glaucoma) or from
abnormalities affecting other regions of the eye (secondary
glaucoma).
➤Definition:
Paediatric glaucomas are a heterogeneous group of diseases
that may result from an isolated congenital abnormality of
the aqueous outflow pathways (primary glaucoma) or from
abnormalities affecting other regions of the eye (secondary
glaucoma).
CONFUSING TERMINOLOGY
➤Primary childhood (paediatric) glaucoma
➤Secondary childhood glaucoma
➤Congenital glaucoma
➤Primary congenital glaucoma
➤Developmental glaucoma
➤Infantile glaucoma
➤Juvenile-onset glaucoma
➤Primary childhood (paediatric) glaucoma
➤Secondary childhood glaucoma
➤Congenital glaucoma
➤Primary congenital glaucoma
➤Developmental glaucoma
➤Infantile glaucoma
➤Juvenile-onset glaucoma
CLASSIFICATION
278 • Pediatric Ophthalmology and Strabismus
Table 22-1 Classification of Childhood Glaucoma
Primary childhood glaucoma
Primary congenital glaucoma (PCG)
Neonatal or newborn onset (age 0-1 month)
Infantile onset (age 1-24 months)
Late-onset or late-recognized (age months)
Juvenile open-angle glaucoma (JOAG)
Secondary childhood glaucoma
Glaucoma associated with nonacquired ocular anomalies
Glaucoma associated with nonacquired systemic disease or syndrome
Glaucoma associated with acquired condition
Glaucoma following cataract surgery
Data from Beck A, ChangTCP, Freedman S. Definition, classification, differential diagnosis. In: Weinreb
RN, Grajewski AL, Papadopoulos M, Grigg J, Freedman S, eds. Childhood Glaucoma. Amsterdam: Kugler
Publications; 2013:3-15.
Papadopoulos M, Cable N, Rahi J, Khaw PT; BIG Eye Study Investigators. The British Infantile
and Childhood Glaucoma (BIG) Eye Study. Invest Ophthalmol Vis Sci. 2007;48(9):4100-4106.
Yeung HH, Walton DS. Clinical classification of childhood glaucomas. Arch Ophthalmol. 2010;
128( 6):680-684.
Primary Childhood Glaucoma
Primary Congenital Glaucoma
PCG is also called congenital or infantile glaucoma. The incidence of PCG varies in dif-
ferent populations, ranging from 1 in 2500 to 1 in 68,000. PCG results in blindness in
2%-15% of cases. Visual acuity remains worse than 20/50 in at least 50% of cases. PCG
is bilateral in about two-thirds of patients and occurs more frequently in males (who ac-
count for 65% of cases) than in females.
Although diagnosis is made at birth in only 25% of affected infants, disease onset
occurs within the first year of life in more than 80% of cases. Neonatal-onset and late-
recognized PCG are associated with guarded prognoses. Pooyan 66961526-7
Pathophysiology
The basic pathologic defect is increased resistance to aqueous outflow due to abnormal
development of anterior chamber angle tissue, which is derived from neural crest cells.
The anomaly occurs late in embryologic development.
Clinical manifestations and diagnosis
PCG usually presents in the neonatal or infantile period. Epiphora, photophobia, and
blepharospasm constitute the classic clinical triad of PCG. Eye redness may be present.
Other signs include clouding and enlargement of the cornea (Fig 22-1).
Corneal edema results from elevated intraocular pressure (lOP) and may be gradual
or sudden in onset. Corneal edema is often the presenting sign in infants younger than
3 months and is responsible for the clinical triad. Microcystic edema initially involves
World Glaucoma Association: Classification of childhood glaucoma
278 • Pediatric Ophthalmology and Strabismus
Table 22-1 Classification of Childhood Glaucoma
Primary childhood glaucoma
Primary congenital glaucoma (PCG)
Neonatal or newborn onset (age 0-1 month)
Infantile onset (age 1-24 months)
Late-onset or late-recognized (age months)
Juvenile open-angle glaucoma (JOAG)
Secondary childhood glaucoma
Glaucoma associated with nonacquired ocular anomalies
Glaucoma associated with nonacquired systemic disease or syndrome
Glaucoma associated with acquired condition
Glaucoma following cataract surgery
Data from Beck A, ChangTCP, Freedman S. Definition, classification, differential diagnosis. In: Weinreb
RN, Grajewski AL, Papadopoulos M, Grigg J, Freedman S, eds. Childhood Glaucoma. Amsterdam: Kugler
Publications; 2013:3-15.
Papadopoulos M, Cable N, Rahi J, Khaw PT; BIG Eye Study Investigators. The British Infantile
and Childhood Glaucoma (BIG) Eye Study. Invest Ophthalmol Vis Sci. 2007;48(9):4100-4106.
Yeung HH, Walton DS. Clinical classification of childhood glaucomas. Arch Ophthalmol. 2010;
128( 6):680-684.
Primary Childhood Glaucoma
Primary Congenital Glaucoma
PCG is also called congenital or infantile glaucoma. The incidence of PCG varies in dif-
ferent populations, ranging from 1 in 2500 to 1 in 68,000. PCG results in blindness in
2%-15% of cases. Visual acuity remains worse than 20/50 in at least 50% of cases. PCG
is bilateral in about two-thirds of patients and occurs more frequently in males (who ac-
count for 65% of cases) than in females.
Although diagnosis is made at birth in only 25% of affected infants, disease onset
occurs within the first year of life in more than 80% of cases. Neonatal-onset and late-
recognized PCG are associated with guarded prognoses. Pooyan 66961526-7
Pathophysiology
The basic pathologic defect is increased resistance to aqueous outflow due to abnormal
development of anterior chamber angle tissue, which is derived from neural crest cells.
The anomaly occurs late in embryologic development.
Clinical manifestations and diagnosis
PCG usually presents in the neonatal or infantile period. Epiphora, photophobia, and
blepharospasm constitute the classic clinical triad of PCG. Eye redness may be present.
Other signs include clouding and enlargement of the cornea (Fig 22-1).
Corneal edema results from elevated intraocular pressure (lOP) and may be gradual
or sudden in onset. Corneal edema is often the presenting sign in infants younger than
3 months and is responsible for the clinical triad. Microcystic edema initially involves
World Glaucoma Association: Classification of childhood glaucoma
PREVIOUS TERMINOLOGY/CLASSIFICATION
The term developmental glaucoma (AKA congenital glaucoma)
refers to those glaucomas associated with developmental
anomalies that are present at birth, including primary congenital
glaucoma and secondary glaucomas associated with other
developmental anomalies, either ocular or systemic.
278 • Pediatric Ophthalmology and Strabismus
Table 22-1 Classification of Childhood Glaucoma
Primary childhood glaucoma
Primary congenital glaucoma (PCG)
Neonatal or newborn onset (age 0-1 month)
Infantile onset (age 1-24 months)
Late-onset or late-recognized (age months)
Juvenile open-angle glaucoma (JOAG)
Secondary childhood glaucoma
Glaucoma associated with nonacquired ocular anomalies
Glaucoma associated with nonacquired systemic disease or syndrome
Glaucoma associated with acquired condition
Glaucoma following cataract surgery
Data from Beck A, ChangTCP, Freedman S. Definition, classification, differential diagnosis. In: Weinreb
RN, Grajewski AL, Papadopoulos M, Grigg J, Freedman S, eds. Childhood Glaucoma. Amsterdam: Kugler
Publications; 2013:3-15.
Papadopoulos M, Cable N, Rahi J, Khaw PT; BIG Eye Study Investigators. The British Infantile
and Childhood Glaucoma (BIG) Eye Study. Invest Ophthalmol Vis Sci. 2007;48(9):4100-4106.
Yeung HH, Walton DS. Clinical classification of childhood glaucomas. Arch Ophthalmol. 2010;
128( 6):680-684.
Primary Childhood Glaucoma
Primary Congenital Glaucoma
PCG is also called congenital or infantile glaucoma. The incidence of PCG varies in dif-
ferent populations, ranging from 1 in 2500 to 1 in 68,000. PCG results in blindness in
2%-15% of cases. Visual acuity remains worse than 20/50 in at least 50% of cases. PCG
is bilateral in about two-thirds of patients and occurs more frequently in males (who ac-
count for 65% of cases) than in females.
Although diagnosis is made at birth in only 25% of affected infants, disease onset
occurs within the first year of life in more than 80% of cases. Neonatal-onset and late-
recognized PCG are associated with guarded prognoses. Pooyan 66961526-7
Pathophysiology
The basic pathologic defect is increased resistance to aqueous outflow due to abnormal
development of anterior chamber angle tissue, which is derived from neural crest cells.
The anomaly occurs late in embryologic development.
Clinical manifestations and diagnosis
PCG usually presents in the neonatal or infantile period. Epiphora, photophobia, and
blepharospasm constitute the classic clinical triad of PCG. Eye redness may be present.
Other signs include clouding and enlargement of the cornea (Fig 22-1).
Corneal edema results from elevated intraocular pressure (lOP) and may be gradual
or sudden in onset. Corneal edema is often the presenting sign in infants younger than
3 months and is responsible for the clinical triad. Microcystic edema initially involves
The term developmental glaucoma (AKA congenital glaucoma)
refers to those glaucomas associated with developmental
anomalies that are present at birth, including primary congenital
glaucoma and secondary glaucomas associated with other
developmental anomalies, either ocular or systemic.
278 • Pediatric Ophthalmology and Strabismus
Table 22-1 Classification of Childhood Glaucoma
Primary childhood glaucoma
Primary congenital glaucoma (PCG)
Neonatal or newborn onset (age 0-1 month)
Infantile onset (age 1-24 months)
Late-onset or late-recognized (age months)
Juvenile open-angle glaucoma (JOAG)
Secondary childhood glaucoma
Glaucoma associated with nonacquired ocular anomalies
Glaucoma associated with nonacquired systemic disease or syndrome
Glaucoma associated with acquired condition
Glaucoma following cataract surgery
Data from Beck A, ChangTCP, Freedman S. Definition, classification, differential diagnosis. In: Weinreb
RN, Grajewski AL, Papadopoulos M, Grigg J, Freedman S, eds. Childhood Glaucoma. Amsterdam: Kugler
Publications; 2013:3-15.
Papadopoulos M, Cable N, Rahi J, Khaw PT; BIG Eye Study Investigators. The British Infantile
and Childhood Glaucoma (BIG) Eye Study. Invest Ophthalmol Vis Sci. 2007;48(9):4100-4106.
Yeung HH, Walton DS. Clinical classification of childhood glaucomas. Arch Ophthalmol. 2010;
128( 6):680-684.
Primary Childhood Glaucoma
Primary Congenital Glaucoma
PCG is also called congenital or infantile glaucoma. The incidence of PCG varies in dif-
ferent populations, ranging from 1 in 2500 to 1 in 68,000. PCG results in blindness in
2%-15% of cases. Visual acuity remains worse than 20/50 in at least 50% of cases. PCG
is bilateral in about two-thirds of patients and occurs more frequently in males (who ac-
count for 65% of cases) than in females.
Although diagnosis is made at birth in only 25% of affected infants, disease onset
occurs within the first year of life in more than 80% of cases. Neonatal-onset and late-
recognized PCG are associated with guarded prognoses. Pooyan 66961526-7
Pathophysiology
The basic pathologic defect is increased resistance to aqueous outflow due to abnormal
development of anterior chamber angle tissue, which is derived from neural crest cells.
The anomaly occurs late in embryologic development.
Clinical manifestations and diagnosis
PCG usually presents in the neonatal or infantile period. Epiphora, photophobia, and
blepharospasm constitute the classic clinical triad of PCG. Eye redness may be present.
Other signs include clouding and enlargement of the cornea (Fig 22-1).
Corneal edema results from elevated intraocular pressure (lOP) and may be gradual
or sudden in onset. Corneal edema is often the presenting sign in infants younger than
3 months and is responsible for the clinical triad. Microcystic edema initially involves
295
CHAPTER
19Developmental and childhood glaucoma
PRIMARY GLAUCOMA
Because not all cases fit precisely into a specific syndrome, an
anatomic classification of these glaucomas has been developed.
4,5
These findings have been grouped according to their clinical man-
ifestations rather than to categories based on pathogenetic mecha-
nisms or genetic linkage.
9
CLINICAL ANATOMIC CLASSIFICATION
Maldevelopment of the anterior segment is present in all forms of
congenital glaucoma. Clinically, gonioscopy and biomicroscopy of
the anterior segment provide the crucial information to determine
the therapy and prognosis for the infant.
10,11
Maldevelopment of the
anterior segment may involve the trabecular meshwork alone or
the trabecular meshwork in combination with the iris, cornea,
or both. The following classification is based solely on empirical
clinical observations and does not imply pathogenetic mechanisms
(Box 19-2).
Isolated trabeculodysgenesis
In approximately 50% of infants and juvenile patients with glau-
coma, isolated trabeculodysgenesis is the only developmental ocular
anomaly found. This is the classic defect found in primary con-
genital glaucoma (Fig. 19-2).
4
These eyes have no developmental
Box 19-1 Syndrome classification of congenital glaucoma
I. Primary glaucoma
A. Congenital open-angle glaucoma
1. Presenting age: 0–5 years
2. Later recognized
B. Autosomal dominant juvenile glaucoma
C. Glaucoma associated with systemic abnormalities
1. Axenfeld-Rieger syndrome
2. Chromosomal disorders
3. Congenital rubella
4. Fetal alcohol syndrome
5. Mucopolysaccharidosis
6. Neurofibromatosis
7. Oculocerebrorenal (Lowe) syndrome
8. Hepatocerebrorenal (Zellweger) syndrome
9. Oculodermal vascular malformations
a. Sturge-Weber syndrome
b. Klippel-Trenaunay-Weber syndrome
c. Oculodermal melanocytosis
d. Phakomatosis pigmentovascularis
e. Cutis marmorata telangiectasia congenita
10. Prader-Willi syndrome
11. Rubenstein-Taybi (broad-thumb) syndrome
12. Pierre Robin and Stickler syndromes
13. Skeletal dysplastic syndromes
a. Kniest syndrome
b. Michel syndrome
c. Oculodentodigital syndrome
D. Glaucoma associated with ocular abnormalities
1. Aniridia
2. Axenfeld-Rieger syndrome
3. Congenital ectropion uveae
4. Congenital hereditary endothelial dystrophy
5. Microcornea syndromes
6. Familial iris hypoplasia
7. Peters syndrome
8. Posterior polymorphous dystrophy
9. Sclerocornea
II. Secondary glaucoma
A. Traumatic glaucoma
1. Acute onset
a. Hyphema and angle recession
b. Lens debris or vitreal blockade of trabeculum
B. Glaucoma secondary to intraocular neoplasm
1. Retinoblastoma
2. Juvenile xanthogranuloma
3. Leukemia
4. Iris rhabdomyosarcoma
C. Uveitic glaucoma
1. Open angle
2. Angle closure
a. Synechial closure
b. Iris bombé with pupillary block
D. Lens-induced glaucoma
1. Subluxation – dislocation with pupillary block
a. Marfan syndrome
b. Homocystinuria
2. Spherophakia with pupillary block
a. Weill-Marchesani syndrome (autosomal recessive)
b. GEMSS syndrome (autosomal dominant)
E. Glaucoma after congenital cataract surgery
1. Chronic open-angle (aphakic or pseudophakic)
2. Lens debris or uveitic blockade of trabeculum
3. Pupillary blockade
F. Steroid-induced glaucoma
G. Neovascular glaucoma
1. Retinoblastoma
2. Coats’ disease
3. Medulloepithelioma
4. Familial exudative vitreoretinopathy
H. Secondary angle-closure glaucoma
1. Retinopathy of prematurity
2. Microphthalmos
3. Nanophthalmos
4. Retinoblastoma
5. Persistent hyperplastic primary vitreous
6. Congenital papillary–iris lens membrane
7. Aniridia
8. Iridoschisis
9. Cornea plana
I. Glaucoma with increased episcleral venous pressure
1. Sturge-Weber syndrome
2. Idiopathic or familial elevated episcleral venous pressure
3. Orbital vascular malformations
J. Glaucoma secondary to intraocular infections
1. Acute recurrent toxoplasmosis
2. Acute herpetic iritis
3. Opportunistic infections seen with AIDS
4. Congenital rubella
Data from Shaffer RN, Weiss DI: Congenital and pediatric glaucomas, St Louis, Mosby, 1970 and Walton DS: Childhood glaucoma. In: Roy FH, editor: Master techniques in ophthalmic
surgery, Baltimore, Williams Wilkins, 1995.
CHAPTER
19Developmental and childhood glaucoma
PRIMARY GLAUCOMA
Because not all cases fit precisely into a specific syndrome, an
anatomic classification of these glaucomas has been developed.
4,5
These findings have been grouped according to their clinical man-
ifestations rather than to categories based on pathogenetic mecha-
nisms or genetic linkage.
9
CLINICAL ANATOMIC CLASSIFICATION
Maldevelopment of the anterior segment is present in all forms of
congenital glaucoma. Clinically, gonioscopy and biomicroscopy of
the anterior segment provide the crucial information to determine
the therapy and prognosis for the infant.
10,11
Maldevelopment of the
anterior segment may involve the trabecular meshwork alone or
the trabecular meshwork in combination with the iris, cornea,
or both. The following classification is based solely on empirical
clinical observations and does not imply pathogenetic mechanisms
(Box 19-2).
Isolated trabeculodysgenesis
In approximately 50% of infants and juvenile patients with glau-
coma, isolated trabeculodysgenesis is the only developmental ocular
anomaly found. This is the classic defect found in primary con-
genital glaucoma (Fig. 19-2).
4
These eyes have no developmental
Box 19-1 Syndrome classification of congenital glaucoma
I. Primary glaucoma
A. Congenital open-angle glaucoma
1. Presenting age: 0–5 years
2. Later recognized
B. Autosomal dominant juvenile glaucoma
C. Glaucoma associated with systemic abnormalities
1. Axenfeld-Rieger syndrome
2. Chromosomal disorders
3. Congenital rubella
4. Fetal alcohol syndrome
5. Mucopolysaccharidosis
6. Neurofibromatosis
7. Oculocerebrorenal (Lowe) syndrome
8. Hepatocerebrorenal (Zellweger) syndrome
9. Oculodermal vascular malformations
a. Sturge-Weber syndrome
b. Klippel-Trenaunay-Weber syndrome
c. Oculodermal melanocytosis
d. Phakomatosis pigmentovascularis
e. Cutis marmorata telangiectasia congenita
10. Prader-Willi syndrome
11. Rubenstein-Taybi (broad-thumb) syndrome
12. Pierre Robin and Stickler syndromes
13. Skeletal dysplastic syndromes
a. Kniest syndrome
b. Michel syndrome
c. Oculodentodigital syndrome
D. Glaucoma associated with ocular abnormalities
1. Aniridia
2. Axenfeld-Rieger syndrome
3. Congenital ectropion uveae
4. Congenital hereditary endothelial dystrophy
5. Microcornea syndromes
6. Familial iris hypoplasia
7. Peters syndrome
8. Posterior polymorphous dystrophy
9. Sclerocornea
II. Secondary glaucoma
A. Traumatic glaucoma
1. Acute onset
a. Hyphema and angle recession
b. Lens debris or vitreal blockade of trabeculum
B. Glaucoma secondary to intraocular neoplasm
1. Retinoblastoma
2. Juvenile xanthogranuloma
3. Leukemia
4. Iris rhabdomyosarcoma
C. Uveitic glaucoma
1. Open angle
2. Angle closure
a. Synechial closure
b. Iris bombé with pupillary block
D. Lens-induced glaucoma
1. Subluxation – dislocation with pupillary block
a. Marfan syndrome
b. Homocystinuria
2. Spherophakia with pupillary block
a. Weill-Marchesani syndrome (autosomal recessive)
b. GEMSS syndrome (autosomal dominant)
E. Glaucoma after congenital cataract surgery
1. Chronic open-angle (aphakic or pseudophakic)
2. Lens debris or uveitic blockade of trabeculum
3. Pupillary blockade
F. Steroid-induced glaucoma
G. Neovascular glaucoma
1. Retinoblastoma
2. Coats’ disease
3. Medulloepithelioma
4. Familial exudative vitreoretinopathy
H. Secondary angle-closure glaucoma
1. Retinopathy of prematurity
2. Microphthalmos
3. Nanophthalmos
4. Retinoblastoma
5. Persistent hyperplastic primary vitreous
6. Congenital papillary–iris lens membrane
7. Aniridia
8. Iridoschisis
9. Cornea plana
I. Glaucoma with increased episcleral venous pressure
1. Sturge-Weber syndrome
2. Idiopathic or familial elevated episcleral venous pressure
3. Orbital vascular malformations
J. Glaucoma secondary to intraocular infections
1. Acute recurrent toxoplasmosis
2. Acute herpetic iritis
3. Opportunistic infections seen with AIDS
4. Congenital rubella
Data from Shaffer RN, Weiss DI: Congenital and pediatric glaucomas, St Louis, Mosby, 1970 and Walton DS: Childhood glaucoma. In: Roy FH, editor: Master techniques in ophthalmic
surgery, Baltimore, Williams Wilkins, 1995.
PRIMARY CONGENITAL GLAUCOMA
➤Incidence: 1 in 2500
➤More common in males (65%)
➤2/3 bilateral
➤Only 25% are detected at birth
➤50% of cases will have vision of 6/15 or worse.
➤Incidence: 1 in 2500
➤More common in males (65%)
➤2/3 bilateral
➤Only 25% are detected at birth
➤50% of cases will have vision of 6/15 or worse.
GENETICS
➤Disease is 90% sporadic
(10% is autosomal
recessive/complex).
CHAPTER 1: Introduction to Glaucoma: Terminology, Epidemiology, and Heredity • 11
penetrance (ie, the disease may not develop even when the causative gene has been inher-
ited); and may be substantially influenced by environmental factors. See also BCSC Sec-
tion 2, Fundamentals and Principles of Ophthalmology, Part III, Genetics. A positive family
history is a risk factor for the development of POAG. The prevalence of glaucoma among
siblings of glaucoma patients is approximately 10%.
The first gene described for POAG, GLCIA (also called the trabecular meshwork
inducible glucocorticoid response/myocilin gene [TIGRIMYOC]), codes for the TIGR
protein and is a trabecular meshwork glucocorticoid gene, located on chromosome 1.
Mutations in GLCIA are present in 3% of the general open-angle glaucoma population.
In the mid-1990s, the gene responsible for mutations in the TIGR protein was identified.
Since then, several additional open-angle glaucoma genes have been mapped, and many
more potential genes are being explored. The percentage of genes known to be associated
with specific types of glaucoma is small, most likely because of the complex nature of the
disease and because of the complicated interactions between multiple genetic loci and
environmental factors (Table 1-4). Researchers are increasingly applying genome-wide
scanning techniques to large cohorts of glaucoma subjects. These techniques may be use-
ful for determining which regions of the genome are associated with glaucoma.
Kass MA, Becker B. Genetics of primary open -angle glaucoma. Sight Sav Rev. 1978;48:21-28.
Table 1-4 Currently Mapped Glaucoma Genes
Chromosome
Locus location Phenotype
GLC1A 1q23 JOAG and adult POAG
GLC18 2cen-q13 NTG, adult POAG
GLC1C 3q21-24 Adult POAG
GLC1D 8q23 Adult POAG
GLC1E 10P15-14 NTG, adult POAG
GLC1F 7q35 Adult POAG
GLC1G 5q22 Adult POAG
GLC1/ 15q11-q13 Adult POAG
GLC1J 9q22 Early POAG
GLC1K 20p12 Early POAG
GPDS1 7q35-q36 PDS
GLC3A 2p21 Congenital
GLC38 1p36 Congenital
GLC3C 14q24.3 Congenital
NN01 11 p Nanophthalmos
VMD2 11q12 Nanophthalmos
MFRP 11q23 Nanophthalmos
R/EG1 4q25 Rieger syndrome
RIEG2 13q14 Rieger syndrome
/R/01 6p25 I ridogo n i odysgenesis
7q35 PDS
NPS 9q34 Nail-patella syndrome
15q24 PXE
Inheritance
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant, complex
Complex
Dominant
Dominant
Dominant
Recessive
Recessive
Recessive
Dominant
Dominant
Recessive
Dominant
Dominant
Dominant
Dominant
Dominant
Gene
T/GR!MYOC
OPTN
WDR36
CYP181
PITX2
FOXC1
LMX1B
LOXL1
JOAG = juvenile open-angle glaucoma; POAG = primary open-angle glaucoma; NTG = normal-tension
glaucoma; PDS =pigment dispersion syndrome; PXE = pseudoexfoliation.
Adapted from Wiggs JL. Genetic etiologies of glaucoma. Arch Ophtha/mol. 2007;125(1):30-37.
➤Disease is 90% sporadic
(10% is autosomal
recessive/complex).
CHAPTER 1: Introduction to Glaucoma: Terminology, Epidemiology, and Heredity • 11
penetrance (ie, the disease may not develop even when the causative gene has been inher-
ited); and may be substantially influenced by environmental factors. See also BCSC Sec-
tion 2, Fundamentals and Principles of Ophthalmology, Part III, Genetics. A positive family
history is a risk factor for the development of POAG. The prevalence of glaucoma among
siblings of glaucoma patients is approximately 10%.
The first gene described for POAG, GLCIA (also called the trabecular meshwork
inducible glucocorticoid response/myocilin gene [TIGRIMYOC]), codes for the TIGR
protein and is a trabecular meshwork glucocorticoid gene, located on chromosome 1.
Mutations in GLCIA are present in 3% of the general open-angle glaucoma population.
In the mid-1990s, the gene responsible for mutations in the TIGR protein was identified.
Since then, several additional open-angle glaucoma genes have been mapped, and many
more potential genes are being explored. The percentage of genes known to be associated
with specific types of glaucoma is small, most likely because of the complex nature of the
disease and because of the complicated interactions between multiple genetic loci and
environmental factors (Table 1-4). Researchers are increasingly applying genome-wide
scanning techniques to large cohorts of glaucoma subjects. These techniques may be use-
ful for determining which regions of the genome are associated with glaucoma.
Kass MA, Becker B. Genetics of primary open -angle glaucoma. Sight Sav Rev. 1978;48:21-28.
Table 1-4 Currently Mapped Glaucoma Genes
Chromosome
Locus location Phenotype
GLC1A 1q23 JOAG and adult POAG
GLC18 2cen-q13 NTG, adult POAG
GLC1C 3q21-24 Adult POAG
GLC1D 8q23 Adult POAG
GLC1E 10P15-14 NTG, adult POAG
GLC1F 7q35 Adult POAG
GLC1G 5q22 Adult POAG
GLC1/ 15q11-q13 Adult POAG
GLC1J 9q22 Early POAG
GLC1K 20p12 Early POAG
GPDS1 7q35-q36 PDS
GLC3A 2p21 Congenital
GLC38 1p36 Congenital
GLC3C 14q24.3 Congenital
NN01 11 p Nanophthalmos
VMD2 11q12 Nanophthalmos
MFRP 11q23 Nanophthalmos
R/EG1 4q25 Rieger syndrome
RIEG2 13q14 Rieger syndrome
/R/01 6p25 I ridogo n i odysgenesis
7q35 PDS
NPS 9q34 Nail-patella syndrome
15q24 PXE
Inheritance
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant, complex
Complex
Dominant
Dominant
Dominant
Recessive
Recessive
Recessive
Dominant
Dominant
Recessive
Dominant
Dominant
Dominant
Dominant
Dominant
Gene
T/GR!MYOC
OPTN
WDR36
CYP181
PITX2
FOXC1
LMX1B
LOXL1
JOAG = juvenile open-angle glaucoma; POAG = primary open-angle glaucoma; NTG = normal-tension
glaucoma; PDS =pigment dispersion syndrome; PXE = pseudoexfoliation.
Adapted from Wiggs JL. Genetic etiologies of glaucoma. Arch Ophtha/mol. 2007;125(1):30-37.
PATHOPHYSIOLOGY
EMBRYOLOGY
114 • Fundamentals and Principles of Ophthalmology
A
8
Ectoderm
Mesoderm
Endoderm
\
eural crest
Neural plate
Notochord
Neural tube
Neural crest
Figure 4-3 Cross sections through embryos before (A) and after (B) the onset of migration of
crest cells (diamond pattern). The ectoderm is peeled back in 8 to show the underlying neu-
ral crest cells. (Reproduced with permission from Johnston MC, Sulik KK. Development of face and oral cavity. ln.·
Bhaskar SN, ed. Orban's Oral Histology and Embryology. 77th ed. StLouis. Mosby.; 1991.)
Figure 4-4 Migration of cranial neural crest cells from dorsal diencephalic and mesencephalic
regions. Left, Cells begin migration anteriorly as tube closes. Center, Crest cells move in waves
around the optic vesicle and lose continuity with the surface cells. Right, The neural tube flexes
ventrally, carrying the optic cup and crest cells ventrally.
114 • Fundamentals and Principles of Ophthalmology
A
8
Ectoderm
Mesoderm
Endoderm
\
eural crest
Neural plate
Notochord
Neural tube
Neural crest
Figure 4-3 Cross sections through embryos before (A) and after (B) the onset of migration of
crest cells (diamond pattern). The ectoderm is peeled back in 8 to show the underlying neu-
ral crest cells. (Reproduced with permission from Johnston MC, Sulik KK. Development of face and oral cavity. ln.·
Bhaskar SN, ed. Orban's Oral Histology and Embryology. 77th ed. StLouis. Mosby.; 1991.)
Figure 4-4 Migration of cranial neural crest cells from dorsal diencephalic and mesencephalic
regions. Left, Cells begin migration anteriorly as tube closes. Center, Crest cells move in waves
around the optic vesicle and lose continuity with the surface cells. Right, The neural tube flexes
ventrally, carrying the optic cup and crest cells ventrally.
EMBRYOLOGY
CHAPTER 4: Ocular Development • 117
Optic vesicle
A
Surface ectoderm
Optic stalk
Wall of prosencephalon
8 c
Figure 4-5 Development of the human optic cup. The optic vesicle and cup are partly cut away
in A and C, and the lens vesicle is sectioned for clarity. A, A 4.5-mm embryo (27 days). B, A
5.5-mm embryo. C, A 7.5-mm embryo (28 days). !Reproduced from Tripathi RC. Comparative aspects of
aqueous outflow. In: Oavson H, ed. The Eye. 3rd ed. Orlando: Academic Press; 1984.)
detachments are commonly observed. As the optic cup forms, 2 processes take place.
First, the surface ectoderm begins to invaginate to form the lens. Second, the area be-
tween the cup and the surface ectoderm fills with a combination of mesodermal and neu-
ral crest-derived cells-the ectomesenchyme that will form much of the anterior segment
of the eye.
The invagination of the optic cup occurs asymmetrically (Figs 4-6, 4-7, 4-8), with a
ventral fissure that facilitates entry of mesodermal and neural crest cells (Fig 4-9). The
fissure closes at its center first and then "zips" both anteriorly and posteriorly. Failure of
fissure closure leads to a coloboma. Anterior colobomas are the most common (they cause
iris and occasionally anterior scleral defects); central colobomas are the least common;
and posterior colobomas occur with a frequency somewhere in between (they give rise to
optic nerve head defects). The location of fissure closure correlates with the inferonasal
quadrant, which is where colobomas are clinically found.
Lens and Anterior Segment Formation Pooyan 66961526-7
Lens formation begins with proliferation of surface ectoderm cells to form a lens plate,
followed by inward invagination of the plate to form a lens pit. As the pit deepens, it closes
CHAPTER 4: Ocular Development • 117
Optic vesicle
A
Surface ectoderm
Optic stalk
Wall of prosencephalon
8 c
Figure 4-5 Development of the human optic cup. The optic vesicle and cup are partly cut away
in A and C, and the lens vesicle is sectioned for clarity. A, A 4.5-mm embryo (27 days). B, A
5.5-mm embryo. C, A 7.5-mm embryo (28 days). !Reproduced from Tripathi RC. Comparative aspects of
aqueous outflow. In: Oavson H, ed. The Eye. 3rd ed. Orlando: Academic Press; 1984.)
detachments are commonly observed. As the optic cup forms, 2 processes take place.
First, the surface ectoderm begins to invaginate to form the lens. Second, the area be-
tween the cup and the surface ectoderm fills with a combination of mesodermal and neu-
ral crest-derived cells-the ectomesenchyme that will form much of the anterior segment
of the eye.
The invagination of the optic cup occurs asymmetrically (Figs 4-6, 4-7, 4-8), with a
ventral fissure that facilitates entry of mesodermal and neural crest cells (Fig 4-9). The
fissure closes at its center first and then "zips" both anteriorly and posteriorly. Failure of
fissure closure leads to a coloboma. Anterior colobomas are the most common (they cause
iris and occasionally anterior scleral defects); central colobomas are the least common;
and posterior colobomas occur with a frequency somewhere in between (they give rise to
optic nerve head defects). The location of fissure closure correlates with the inferonasal
quadrant, which is where colobomas are clinically found.
Lens and Anterior Segment Formation Pooyan 66961526-7
Lens formation begins with proliferation of surface ectoderm cells to form a lens plate,
followed by inward invagination of the plate to form a lens pit. As the pit deepens, it closes
EMBRYOLOGY
CHAPTER 4: Ocular Development • 121
Epithelium
2
Retina
Figure 4-11 Three successive waves of ingrowth of neural crest cells associated with differen-
tiation of the anterior chambers. 1, First wave forms the corneal endothelium. 2, Second wave
forms the iris and part of the pupillary membrane. 3, Third wave forms keratocytes. {Reproduced
with permission from Tripathi RC. Comparative aspects of aqueous outflow. In: Davson H, Graham LT Jr, eds. The Eye.
Vol 5. Orlando: Academic Press; 1974.)
A 39 days D
Figure 4-12 Development of the cornea in the central region A, At day 39, 2-layered epithe-
lium rests on the basal lamina and is separated from the endothelium (2-3 layers) by a narrow
acellular space. B, At week 7, mesenchymal cells from the periphery migrate into the space
between the epithelium and the endothelium. C, Mesenchymal cells (future keratocytes) are
arranged in 4-5 incomplete layers by 7% weeks; a few collagen fibrils are present among the
cells. D, By 3 months, the epithelium has 2-3 layers of cells, and the stroma has approximately
25-30 layers of keratocytes that are arranged more regularly in the posterior half. Thin, uneven
Descemet membrane lies between the most posterior keratocytes and the now-single layer of
endothelium. {Reproduced from Cook CS, Ozanics B, Jakobiec FA. Prenatal development of the eye and its adnexa.
ln.· Tasman W, Jaegaer EA, eds. Duane's Foundations of Clinical Ophthalmology. Vol 1. Philadelphia. Lippincott; 7987)
CHAPTER 4: Ocular Development • 121
Epithelium
2
Retina
Figure 4-11 Three successive waves of ingrowth of neural crest cells associated with differen-
tiation of the anterior chambers. 1, First wave forms the corneal endothelium. 2, Second wave
forms the iris and part of the pupillary membrane. 3, Third wave forms keratocytes. {Reproduced
with permission from Tripathi RC. Comparative aspects of aqueous outflow. In: Davson H, Graham LT Jr, eds. The Eye.
Vol 5. Orlando: Academic Press; 1974.)
A 39 days D
Figure 4-12 Development of the cornea in the central region A, At day 39, 2-layered epithe-
lium rests on the basal lamina and is separated from the endothelium (2-3 layers) by a narrow
acellular space. B, At week 7, mesenchymal cells from the periphery migrate into the space
between the epithelium and the endothelium. C, Mesenchymal cells (future keratocytes) are
arranged in 4-5 incomplete layers by 7% weeks; a few collagen fibrils are present among the
cells. D, By 3 months, the epithelium has 2-3 layers of cells, and the stroma has approximately
25-30 layers of keratocytes that are arranged more regularly in the posterior half. Thin, uneven
Descemet membrane lies between the most posterior keratocytes and the now-single layer of
endothelium. {Reproduced from Cook CS, Ozanics B, Jakobiec FA. Prenatal development of the eye and its adnexa.
ln.· Tasman W, Jaegaer EA, eds. Duane's Foundations of Clinical Ophthalmology. Vol 1. Philadelphia. Lippincott; 7987)
EMBRYOLOGY
InfantileGlaucoma
FIGURE1
Angleofa450-gram(20week)humanfetus.Thetrabecularmeshwork isburiedbeneath
uvealtissue,withtheciliarymuscleandtheciliaryprocessesoverlappingthetrabecular
meshwork.Looseconnectivetissue(LCT)separatestheciliarybodyfromthetrabecular
meshwork(paraphenylenediamine,x200).
AbbreviationsusedinallFigures:AC=anteriorchamber,C=cornea,CM=ciliary
muscle,CP=ciliaryprocesses,IR=iris,JCT=juxtacanalicularconnectivetissue,LCT
=looseconnectivetissue,SC=Schlemm'scanal,SS=scleralspur,TM=trabecular
meshwork.
samelevel,facingthetrabecularmeshwork, istheciliarybody(ciliary
musclesandciliaryprocesses)towhichtherootoftheirisisattached.
Betweenthetrabecularmeshworkandtheciliarymuscleisaloosecollec-
tionofcellssimilartotheirisstromawithwhichitiscontinuous.These
areseeminglytheciliarybodystromalcellsthatultimatelywilllinethe
recessoftheanteriorchamberangle.
Laterindevelopment,theperipheralmarginoftheanteriorchamber
movesposteriorlyandtheinnersurfaceofthetrabecularmeshwork
becomesexposedtotheanteriorchamber.3,7-15Atonetimeitwassup-
posedthattheanteriorchamberrecessdeepensbyatrophyoftherarified
tissuethatintheearlierstageseparatedthetrabecularmeshworkand
ciliarybody.Laterviews13haveemphasizedtheroleofcleavageintothis
loosetissue,sincethereisnoevidenceoftissueloss(atrophy).
463
InfantileGlaucoma
FIGURE1
Angleofa450-gram(20week)humanfetus.Thetrabecularmeshwork isburiedbeneath
uvealtissue,withtheciliarymuscleandtheciliaryprocessesoverlappingthetrabecular
meshwork.Looseconnectivetissue(LCT)separatestheciliarybodyfromthetrabecular
meshwork(paraphenylenediamine,x200).
AbbreviationsusedinallFigures:AC=anteriorchamber,C=cornea,CM=ciliary
muscle,CP=ciliaryprocesses,IR=iris,JCT=juxtacanalicularconnectivetissue,LCT
=looseconnectivetissue,SC=Schlemm'scanal,SS=scleralspur,TM=trabecular
meshwork.
samelevel,facingthetrabecularmeshwork, istheciliarybody(ciliary
musclesandciliaryprocesses)towhichtherootoftheirisisattached.
Betweenthetrabecularmeshworkandtheciliarymuscleisaloosecollec-
tionofcellssimilartotheirisstromawithwhichitiscontinuous.These
areseeminglytheciliarybodystromalcellsthatultimatelywilllinethe
recessoftheanteriorchamberangle.
Laterindevelopment,theperipheralmarginoftheanteriorchamber
movesposteriorlyandtheinnersurfaceofthetrabecularmeshwork
becomesexposedtotheanteriorchamber.3,7-15Atonetimeitwassup-
posedthattheanteriorchamberrecessdeepensbyatrophyoftherarified
tissuethatintheearlierstageseparatedthetrabecularmeshworkand
ciliarybody.Laterviews13haveemphasizedtheroleofcleavageintothis
loosetissue,sincethereisnoevidenceoftissueloss(atrophy).
463
Anderson
However, itisevidentthatthedevelopmentalprocessdoesnotconsist
ofsimplecleavageoratrophy,forwitheitherprocesstheuvealtract
wouldsimplysplitawayfromthecorneoscleral shellandthetrabecular
tissue(Fig2A).Theresultwouldbethattheciliarymusclewouldextend
intotheperipheral iris,andtheciliaryprocesseswouldbeontheposte-
riorsurfaceoftheperipheral iris.
Thefactis,however,thattheciliarymuscleandtheciliaryprocesses
remainattachedtothecorneoscleral envelope,butbecomerecessed
comparedtotheirformerposition(Fig2B).Theciliarymuscle,and
especiallytheciliaryprocesses,overlapthetrabecularmeshworkinitially
(Fig1),butarelaterrecessedtoapositionbehindthescleralspur'5(Figs
3and4).Thisrepositioningcanbeexplainedonlybyaposteriorslidingof
theuvealtissuesinrelationtothecorneaandsclera,presumablyduetoa
TRABECULAR _-
MESHWORK ~ ~ :
I
_-w
.
_
l
FIGURE2
Processofexposingthetrabecularmeshworktotheanteriorchamberduringdevelopment.
Iftheuvealtractsimplysplitsaway(A)bycleavageorbyatrophyoftissue,theresultwould
beanangleconfiguration inwhichtheciliarymuscleextendsintotheirisandtheciliary
processesareonthebackoftheiris.However,withslippageofthelayers(B)dueto
differentialgrowthrate,theciliarymuscleandtheciliaryprocessesthatinitiallyoverlapped
thetrabecularmeshworksurfacecometolieposteriorly.
464
However, itisevidentthatthedevelopmentalprocessdoesnotconsist
ofsimplecleavageoratrophy,forwitheitherprocesstheuvealtract
wouldsimplysplitawayfromthecorneoscleral shellandthetrabecular
tissue(Fig2A).Theresultwouldbethattheciliarymusclewouldextend
intotheperipheral iris,andtheciliaryprocesseswouldbeontheposte-
riorsurfaceoftheperipheral iris.
Thefactis,however,thattheciliarymuscleandtheciliaryprocesses
remainattachedtothecorneoscleral envelope,butbecomerecessed
comparedtotheirformerposition(Fig2B).Theciliarymuscle,and
especiallytheciliaryprocesses,overlapthetrabecularmeshworkinitially
(Fig1),butarelaterrecessedtoapositionbehindthescleralspur'5(Figs
3and4).Thisrepositioningcanbeexplainedonlybyaposteriorslidingof
theuvealtissuesinrelationtothecorneaandsclera,presumablyduetoa
TRABECULAR _-
MESHWORK ~ ~ :
I
_-w
.
_
l
FIGURE2
Processofexposingthetrabecularmeshworktotheanteriorchamberduringdevelopment.
Iftheuvealtractsimplysplitsaway(A)bycleavageorbyatrophyoftissue,theresultwould
beanangleconfiguration inwhichtheciliarymuscleextendsintotheirisandtheciliary
processesareonthebackoftheiris.However,withslippageofthelayers(B)dueto
differentialgrowthrate,theciliarymuscleandtheciliaryprocessesthatinitiallyoverlapped
thetrabecularmeshworksurfacecometolieposteriorly.
464
InfantileGlaucoma
FIGURE3
Anteriorchamberangleofa930-gram(27week)humanfetus.Theuvealtracthasrecededso
thattheanteriorportionofthetrabecularmeshwork isexposedtotheanteriorchamber.
However,theciliarymusclestilloverlapstheposteriorportionofthetrabecularmeshwork,
andtheciliaryprocessesareevenfurtherforward,beinganteriortoSchlemm'scanal
(paraphenylenediamine,x200).
differentialgrowthrateofthevarioustissueelements.Therepositioning
processisnotjustaslidingoftheuvealtractalongtheinnersideofthe
sclera.Thereisalsoarepositioningofthevariouslayerswithintheuveal
tractinrelationtooneanother:initiallytheinnermostmusclefibershave
apositionrelativelymoreanteriorthantheoutermostfibers.Also,ascan
beseeninFigure3,theciliaryprocessesareinitiallymuchfurther
forwardthantheciliarymuscle.However, later,theciliarymuscleand
theciliaryprocessesbothrecedetothesamelevelandlieside-by-side,
posteriortothetrabecularmeshworkandscleralspur.'5
Toallowslippageandprogressiveexposureofthemeshworktothe
anteriorchamber,theremustnotbeanyrestrainingadhesionsbetween
theslippinglayers,andparticularlynotbetweentheuvealtractandthe
corneoscleral shell.Thereforetheregionoftherecessofthefutureante-
riorchambermustnaturallyconsistof.alooseconnectivetissuethatcan
yieldtotheslippageforces.Thislooseconnectivetissuemayhavepoten-
tialspacesorcleftsthatsuggestatrophyorimpendingcleavagewhen
viewedinhistologicsection.
465
FIGURE3
Anteriorchamberangleofa930-gram(27week)humanfetus.Theuvealtracthasrecededso
thattheanteriorportionofthetrabecularmeshwork isexposedtotheanteriorchamber.
However,theciliarymusclestilloverlapstheposteriorportionofthetrabecularmeshwork,
andtheciliaryprocessesareevenfurtherforward,beinganteriortoSchlemm'scanal
(paraphenylenediamine,x200).
differentialgrowthrateofthevarioustissueelements.Therepositioning
processisnotjustaslidingoftheuvealtractalongtheinnersideofthe
sclera.Thereisalsoarepositioningofthevariouslayerswithintheuveal
tractinrelationtooneanother:initiallytheinnermostmusclefibershave
apositionrelativelymoreanteriorthantheoutermostfibers.Also,ascan
beseeninFigure3,theciliaryprocessesareinitiallymuchfurther
forwardthantheciliarymuscle.However, later,theciliarymuscleand
theciliaryprocessesbothrecedetothesamelevelandlieside-by-side,
posteriortothetrabecularmeshworkandscleralspur.'5
Toallowslippageandprogressiveexposureofthemeshworktothe
anteriorchamber,theremustnotbeanyrestrainingadhesionsbetween
theslippinglayers,andparticularlynotbetweentheuvealtractandthe
corneoscleral shell.Thereforetheregionoftherecessofthefutureante-
riorchambermustnaturallyconsistof.alooseconnectivetissuethatcan
yieldtotheslippageforces.Thislooseconnectivetissuemayhavepoten-
tialspacesorcleftsthatsuggestatrophyorimpendingcleavagewhen
viewedinhistologicsection.
465
Anderson
FIGURE4
Twodifferentareasoftheanteriorchamberofthesameeyeofa1400-gramhumanfetus.A:
Theciliarymuscleandtheciliaryprocessesaresidebysideatthelevelofthescleralspur,
andtheanglerecesshasrecededtothepointthatmostofthetrabecularmeshwork is
exposedtotheanteriorchamber.Spacesareseenbetweenthetrabecularbeamscovered
withtrabecularmeshworkendothelial cells.Schlemm'scanalisnotyetformedinthis
region. B:VesiclescanbeseenontheinnerwallofSchlemm'scanal(paraphenylene
diamine,x200).
466
FIGURE4
Twodifferentareasoftheanteriorchamberofthesameeyeofa1400-gramhumanfetus.A:
Theciliarymuscleandtheciliaryprocessesaresidebysideatthelevelofthescleralspur,
andtheanglerecesshasrecededtothepointthatmostofthetrabecularmeshwork is
exposedtotheanteriorchamber.Spacesareseenbetweenthetrabecularbeamscovered
withtrabecularmeshworkendothelial cells.Schlemm'scanalisnotyetformedinthis
region. B:VesiclescanbeseenontheinnerwallofSchlemm'scanal(paraphenylene
diamine,x200).
466
Anderson468
DEVELOPMENTAL GLAUCOMAS
➤All are associated with maldevelopment of the anterior
segment. Maldevelopment classified anatomically based on
clinical and histological observation into:
➤Trabeculdysgenesis (50%): Maldevelopment of the
trabecular meshwork only.
➤Iridodysgenesis: Maldevelopment of the trabecular
meshwork and iris
➤Coneaodysgenesis: Maldevelopment of the trabecular
meshwork, iris and cornea
➤All are associated with maldevelopment of the anterior
segment. Maldevelopment classified anatomically based on
clinical and histological observation into:
➤Trabeculdysgenesis (50%): Maldevelopment of the
trabecular meshwork only.
➤Iridodysgenesis: Maldevelopment of the trabecular
meshwork and iris
➤Coneaodysgenesis: Maldevelopment of the trabecular
meshwork, iris and cornea
Trabeculdysgenesis
➤Present in 50% of children with glaucoma
➤Classically found in primary congenital glaucoma
➤Present in 50% of children with glaucoma
➤Classically found in primary congenital glaucoma
Trabeculdysgenesis
➤Abnormal iris insertion
296
PA RT
4 CLINICAL ENTITIES
anomalies of the iris or cornea, except for an abnormal insertion
of the iris into the angle wall. The iris and cornea may demonstrate
secondary changes as a result of elevated IOP.
This maldevelopment of the trabecular meshwork is present in
one of two forms. In the most common form, the iris inserts flatly
into the trabecular meshwork either at or anterior to the scleral spur
(Fig. 19-3). The ciliary body is usually obscured by this insertion,
although the anterior ciliary body may be seen through thick
trabecular meshwork if the angle is viewed obliquely from above.
The invisibility of the angle recess and ciliary body in the eye with
glaucomatous trabeculodysgenesis is a key distinction from the
normal infant angle.
12
The iris insertion level may vary along the
chamber angle, with some portions of the iris inserting anterior to
the scleral spur and other areas inserting at the spur or even pos-
terior to the spur (Fig. 19-4). The surface of the trabecular mesh-
work may have a stippled, orange peel appearance. The peripheral
iris stroma may appear thinned and expose radial blood vessels, as
are seen in the immature iris of normal infants. More pronounced
iris thinning can occur if the eye enlarges.
In the second form of isolated trabeculodysgenesis, the iris
inserts concavely into the chamber angle wall. The plane of the
iris is posterior to the scleral spur, but the anterior stroma sweeps
upward over the trabecular meshwork obscuring the scleral spur
and inserting into the upper portion of the trabecular meshwork
just posterior to Schwalbe’s line. Thus the iris sweeps around the
angle, forming a concave or ‘wrap-around’ insertion. This confor-
mation is recognized most easily in brown irides and is less com-
monly seen in children than the flat iris insertion (Fig. 19-5).
Box 19-2 Clinical anatomic classification of developmental
glaucoma
I. Isolated trabeculodysgenesis (malformation of trabecular meshwork in
the absence of iris or corneal anomalies)
A. Flat iris insertion
1. Anterior insertion
2. Posterior insertion
3. Mixed insertion
B. Concave (wrap-around) iris insertion
C. Unclassified
II. Iridodysgenesis (iris anomalies are usually seen with
trabeculodysgenesis)
A. Anterior stromal defects
1. Hypoplasia
2. Hyperplasia
B. Anomalous iris vessels
1. Persistence of tunica vasculosa lentis
2. Anomalous superficial vessels
C. Structural anomalies
1. Holes
2. Colobomata
3. Aniridia
III. Corneodysgenesis (corneal anomalies are usually seen with
iridodysgenesis)
A. Peripheral
B. Midperipheral
C. Central
D. Corneal size
1. Macrocornea
2. Microcornea
Fig. 19-2 Anterior segment photograph of a patient with primary
congenital glaucoma with an enlarged, clear cornea. A U-shaped Haab’s
striae extends from the 9 o’clock to the 1 o’clock position. The slightly rolled
edges of the original break in Descemet’s membrane parallel each other.
(From Campbell DG, Netland PN: Stereo atlas of glaucoma, St Louis, Mosby,
1998.)
Anterior Iris Insertion
Fig. 19-3 Gonioscopic drawing of isolated trabeculodysgenesis with flat
anterior iris insertion.
Internal surface of
trabecular meshwork
Iris surface
Iris surface
Iris surface
Anterior to spur
At spur
Posterior to spur
Fig. 19-4 In isolated trabeculodysgenesis with flat insertion, the iris may
insert behind, at, or anterior to the scleral spur. In this type of disease, the
iris most commonly inserts anterior to the spur.
297
CHAPTER
19Developmental and childhood glaucoma
Both the anterior flat iris insertion and the ‘wrap-around’ configu-
ration may appear in later ‘juvenile’ forms of open-angle glaucoma
through the third or fourth decade of life.
13
Isolated trabeculodysgenesis must be differentiated from the goni-
oscopic appearance of the anterior chamber angle in a normal new-
born eye. In a normal newborn, a flat insertion of the iris into the
angle wall just posterior to the scleral spur is present. The normal
angle recess forms during the first 6–12 months of life. The ciliary
body is seen as a distinct band anterior to this iris insertion. The more
narrow the ciliary body band, the more developmentally immature is
the angle.
14
Isolated trabeculodysgenesis usually presents with symptoms of
elevated IOP after the first month of life. A key point in the surgi-
cal management of glaucoma infants: if examination reveals isolated
trabeculodysgenesis, a prompt goniotomy is highly successful.
15
Iridodysgenesis
Congenital anomalies of the iris are associated with maldevelop-
ment of the trabecular meshwork, the anterior stroma, the full
thickness of the iris, the iris vessels, or any combination of these
structures.
15a,15b
In these disorders, the appearance of the trabecular
meshwork may be similar to that found in isolated trabeculodys-
genesis. In some cases, additional changes may be seen in the angle,
such as irregular clumping of tissue, abnormal vessels, or irido-
corneal adhesions.
Anterior stromal defects
Hypoplasia of the anterior iris stroma is the most common iris
defect associated with developmental glaucoma. True hypoplasia of
the anterior stroma, as opposed to atrophy or thinning, is diagnosed
only when there is clear malformation of the collarette with absence
or marked reduction of the crypts. This condition is to be distin-
guished from the stretching of the iris from elevated IOP, which
can thin the anterior stroma. The pupillary sphincter may be quite
prominent and can have a distinct ring appearance or a ‘feathered’
outer border (Fig. 19-6; also see Fig. 19-32).
Iris hyperplasia causes a thickened, velvety, pebbled appearance of
the anterior iris stroma. Hyperplasia is uncommon and is some-
times seen in association with Sturge-Weber syndrome.
Developmental anomalies of the iris vasculature can occur
as a persistent tunica vasculosa lentis or as irregularly wandering
superficial iris vessels. In persistence of the tunica vasculosa lentis
Fig. 19-5 (A) Goniophotograph of a young patient with primary congenital glaucoma revealing a flat iris with peripheral thinning and peripheral radial
vessels. A high insertion to the level of the scleral spur is not visible above but is visible below. The trabecular meshwork is slightly greyish, and there is no
definition to Schwalbe’s line. There is no pigmentation within the trabecular meshwork, which is normal for young people. (B) Histopathology of primary
infantile glaucoma. The iris and anterior ciliary body cover the scleral spur and posterior trabecular meshwork. The intratrabecular spaces are compacted.
(C) Concave iris insertion in isolated trabeculodysgenesis. The iris may sweep up over the trabecular meshwork as a dense sheet or loose syncytium.
Glaucoma associated with this type of iris insertion will respond to goniotomy in infants.
(A from Campbell DG, Netland PN: Stereo atlas of glaucoma, St Louis, Mosby, 1998. B from Armed Forces Institute of Pathology. In: Alward WLM: Color atlas of
gonioscopy, San Francisco, Foundation of American Academy of Ophthalmology, 2000.)
(C)
Meshwork
Spur
Sheets
Anterior stromal insertion
(A)
(B)
Anterior iris insertion Posterior iris insertion
➤Abnormal iris insertion
296
PA RT
4 CLINICAL ENTITIES
anomalies of the iris or cornea, except for an abnormal insertion
of the iris into the angle wall. The iris and cornea may demonstrate
secondary changes as a result of elevated IOP.
This maldevelopment of the trabecular meshwork is present in
one of two forms. In the most common form, the iris inserts flatly
into the trabecular meshwork either at or anterior to the scleral spur
(Fig. 19-3). The ciliary body is usually obscured by this insertion,
although the anterior ciliary body may be seen through thick
trabecular meshwork if the angle is viewed obliquely from above.
The invisibility of the angle recess and ciliary body in the eye with
glaucomatous trabeculodysgenesis is a key distinction from the
normal infant angle.
12
The iris insertion level may vary along the
chamber angle, with some portions of the iris inserting anterior to
the scleral spur and other areas inserting at the spur or even pos-
terior to the spur (Fig. 19-4). The surface of the trabecular mesh-
work may have a stippled, orange peel appearance. The peripheral
iris stroma may appear thinned and expose radial blood vessels, as
are seen in the immature iris of normal infants. More pronounced
iris thinning can occur if the eye enlarges.
In the second form of isolated trabeculodysgenesis, the iris
inserts concavely into the chamber angle wall. The plane of the
iris is posterior to the scleral spur, but the anterior stroma sweeps
upward over the trabecular meshwork obscuring the scleral spur
and inserting into the upper portion of the trabecular meshwork
just posterior to Schwalbe’s line. Thus the iris sweeps around the
angle, forming a concave or ‘wrap-around’ insertion. This confor-
mation is recognized most easily in brown irides and is less com-
monly seen in children than the flat iris insertion (Fig. 19-5).
Box 19-2 Clinical anatomic classification of developmental
glaucoma
I. Isolated trabeculodysgenesis (malformation of trabecular meshwork in
the absence of iris or corneal anomalies)
A. Flat iris insertion
1. Anterior insertion
2. Posterior insertion
3. Mixed insertion
B. Concave (wrap-around) iris insertion
C. Unclassified
II. Iridodysgenesis (iris anomalies are usually seen with
trabeculodysgenesis)
A. Anterior stromal defects
1. Hypoplasia
2. Hyperplasia
B. Anomalous iris vessels
1. Persistence of tunica vasculosa lentis
2. Anomalous superficial vessels
C. Structural anomalies
1. Holes
2. Colobomata
3. Aniridia
III. Corneodysgenesis (corneal anomalies are usually seen with
iridodysgenesis)
A. Peripheral
B. Midperipheral
C. Central
D. Corneal size
1. Macrocornea
2. Microcornea
Fig. 19-2 Anterior segment photograph of a patient with primary
congenital glaucoma with an enlarged, clear cornea. A U-shaped Haab’s
striae extends from the 9 o’clock to the 1 o’clock position. The slightly rolled
edges of the original break in Descemet’s membrane parallel each other.
(From Campbell DG, Netland PN: Stereo atlas of glaucoma, St Louis, Mosby,
1998.)
Anterior Iris Insertion
Fig. 19-3 Gonioscopic drawing of isolated trabeculodysgenesis with flat
anterior iris insertion.
Internal surface of
trabecular meshwork
Iris surface
Iris surface
Iris surface
Anterior to spur
At spur
Posterior to spur
Fig. 19-4 In isolated trabeculodysgenesis with flat insertion, the iris may
insert behind, at, or anterior to the scleral spur. In this type of disease, the
iris most commonly inserts anterior to the spur.
297
CHAPTER
19Developmental and childhood glaucoma
Both the anterior flat iris insertion and the ‘wrap-around’ configu-
ration may appear in later ‘juvenile’ forms of open-angle glaucoma
through the third or fourth decade of life.
13
Isolated trabeculodysgenesis must be differentiated from the goni-
oscopic appearance of the anterior chamber angle in a normal new-
born eye. In a normal newborn, a flat insertion of the iris into the
angle wall just posterior to the scleral spur is present. The normal
angle recess forms during the first 6–12 months of life. The ciliary
body is seen as a distinct band anterior to this iris insertion. The more
narrow the ciliary body band, the more developmentally immature is
the angle.
14
Isolated trabeculodysgenesis usually presents with symptoms of
elevated IOP after the first month of life. A key point in the surgi-
cal management of glaucoma infants: if examination reveals isolated
trabeculodysgenesis, a prompt goniotomy is highly successful.
15
Iridodysgenesis
Congenital anomalies of the iris are associated with maldevelop-
ment of the trabecular meshwork, the anterior stroma, the full
thickness of the iris, the iris vessels, or any combination of these
structures.
15a,15b
In these disorders, the appearance of the trabecular
meshwork may be similar to that found in isolated trabeculodys-
genesis. In some cases, additional changes may be seen in the angle,
such as irregular clumping of tissue, abnormal vessels, or irido-
corneal adhesions.
Anterior stromal defects
Hypoplasia of the anterior iris stroma is the most common iris
defect associated with developmental glaucoma. True hypoplasia of
the anterior stroma, as opposed to atrophy or thinning, is diagnosed
only when there is clear malformation of the collarette with absence
or marked reduction of the crypts. This condition is to be distin-
guished from the stretching of the iris from elevated IOP, which
can thin the anterior stroma. The pupillary sphincter may be quite
prominent and can have a distinct ring appearance or a ‘feathered’
outer border (Fig. 19-6; also see Fig. 19-32).
Iris hyperplasia causes a thickened, velvety, pebbled appearance of
the anterior iris stroma. Hyperplasia is uncommon and is some-
times seen in association with Sturge-Weber syndrome.
Developmental anomalies of the iris vasculature can occur
as a persistent tunica vasculosa lentis or as irregularly wandering
superficial iris vessels. In persistence of the tunica vasculosa lentis
Fig. 19-5 (A) Goniophotograph of a young patient with primary congenital glaucoma revealing a flat iris with peripheral thinning and peripheral radial
vessels. A high insertion to the level of the scleral spur is not visible above but is visible below. The trabecular meshwork is slightly greyish, and there is no
definition to Schwalbe’s line. There is no pigmentation within the trabecular meshwork, which is normal for young people. (B) Histopathology of primary
infantile glaucoma. The iris and anterior ciliary body cover the scleral spur and posterior trabecular meshwork. The intratrabecular spaces are compacted.
(C) Concave iris insertion in isolated trabeculodysgenesis. The iris may sweep up over the trabecular meshwork as a dense sheet or loose syncytium.
Glaucoma associated with this type of iris insertion will respond to goniotomy in infants.
(A from Campbell DG, Netland PN: Stereo atlas of glaucoma, St Louis, Mosby, 1998. B from Armed Forces Institute of Pathology. In: Alward WLM: Color atlas of
gonioscopy, San Francisco, Foundation of American Academy of Ophthalmology, 2000.)
(C)
Meshwork
Spur
Sheets
Anterior stromal insertion
(A)
(B)
Anterior iris insertion Posterior iris insertion
IRIDOCORNEAL ANGLE IN PRIMARY CONGENITAL GLAUCOMA
CHAPTER 22: Pediatric Glaucomas • 281
MEASUREMENT OF CENTRAL CORNEAL THICKNESS Portable ultrasonic pachymeters may be
used to measure central corneal thickness (CCT), which is typically higher in infants with
glaucoma. The CCT affects the lOP measurement, but current evidence is inadequate to
quantify these effects. See also Chapter 15.
Freedman SF. Central corneal thickness in children-does it help or hinder our evaluation of
eyes at risk for glaucoma? J AAPOS. 2008;12(1):1-2.
ANTERIOR SEGMENT EXAMINATION A portable slit lamp allows detailed inspection of the ante-
rior segment. An abnormally deep anterior chamber and hypoplasia of the peripheral iris
stroma are common findings in PCG.
Gonioscopy provides important information regarding the mechanism of glaucoma.
It is best performed with the use of a goniolens and a portable slit lamp or loupes. The
anterior chamber angle of a normal infant's eye (Fig 22-3A) differs from that of an adult
in the following ways:
• The trabecular meshwork is more lightly pigmented.
• The Schwalbe line is often less distinct.
• The uveal meshwork is translucent, so the junction between the scleral spur and the
ciliary body band is often not well seen.
In PCG, the iris often shows an insertion more anterior than that in a normal infant,
and the translucence of the uveal meshwork is altered, making the ciliary body band, tra-
becular meshwork, and scleral spur indistinct. The scalloped border of the iris pigment
epithelium is often unusually prominent, especially when peripheral iris stromal hypopla-
sia is present (Fig 22-3B).
OPTIC NERVE EXAMINATION The optic nerve, when visible, usually shows increased cupping
in PCG. Generalized enlargement of the optic cup in very young patients with glaucoma
A
Figure 22-3 A, The anterior chamber angle of a normal infant's eye, as seen by direct gonios-
copy with a Koeppe lens. B, Typical appearance of the anterior chamber angle of an infant with
congenital glaucoma. (Courtesv of Ken K. Nischal, MD.!
CHAPTER 7: Anterior Chamber and Trabecular Meshwork • 103
Figure 7-3 Congenital glaucoma. Fetal anterior chamber angle demonstrates anterior insertion
of the iris root (red arrow), anteriorly displaced ciliary processes, and a poorly developed scleral
spur (black arrow) and trabecular meshwork (arrowhead). !Courtesy of Tatyana Milman, MD.!
iris strands adherent to the Schwalbe line, iris hypoplasia, corectopia and polycoria, and a
maldeveloped or "fetal" anterior chamber angle (discussed earlier) (Figs 7-4, 7-5). See also
BCSC Section 8, External Disease and Cornea.
Espinoza HM, Cox CJ, Semina EV, Amendt BA. A molecular basis for differential developmen-
tal anomalies in Axenfeld-Rieger syndrome. Hum Mol Genet. 2002;11(7):743-753.
Figure 7-4 Posterior embryotoxon. Light micrograph shows a nodular prominence at the ter-
mination of the Descemet membrane (arrow). TM = trabecular meshwork. !Courtesy of Hans E.
Grossniklaus, MD.)
102 • Ophthalmic Pathology and Intraocular Tumors
Figure 7-2 Normal anterior chamber angle. Gonioscopic landmarks of the anterior chamber
angle with histologic correlation. TM = trabecular meshwork. (Courtesy of Tatyana Mitman, MD.!
canal are nested in the groove formed by the scleral spur and corneoscleral tissue (internal
scleral sulcus). See also Figures 2-lB and 2-2 in BCSC Section 10, Glaucoma.
Congenital Anomalies
BCSC Section 10, Glaucoma, also discusses the conditions described in the following
sections.
Primary Congenital Glaucoma
Primary congenital glaucoma, also referred to as congenital or infantile glaucoma, becomes
evident at birth or within the first few years of life. The pathogenesis of primary congenital
glaucoma may be related to the arrested development of the anterior chamber angle struc-
tures. Histologically, the anterior chamber angle retains an "embryonic" or "fetal" con-
formation, characterized by anterior insertion of the iris root, a poorly developed scleral
spur with insertion of the ciliary body muscle directly into the trabecular meshwork, and
mesenchymal tissue in the anterior chamber angle (Fig 7-3). See BCSC Section 6, Pediatric
Ophthalmology and Strabismus, for detailed discussion.
Anterior Segment Dysgenesis
Anterior segment dysgenesis is the term used for a spectrum of developmental anomalies
resulting from abnormalities of neural crest migration and differentiation during embryo-
logic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus,
and iridoschisis). Maldevelopment of the anterior chamber angle is most prominent in
Axenfeld-Rieger syndrome, an autosomal dominant disorder, which itself encompasses a
spectrum of anomalies, ranging from isolated bilateral ocular defects to a fully manifested
systemic disorder. The single most important clinical feature of Axenfeld-Rieger syn-
drome phenotypes is that they confer at least a 50% risk of developing glaucoma.
Ocular manifestations of Axenfeld-Rieger syndrome include posterior embryotoxon (a
thickened and anteriorly displaced Schwalbe line [termination ofDescemet membrane]),
CHAPTER 22: Pediatric Glaucomas • 281
MEASUREMENT OF CENTRAL CORNEAL THICKNESS Portable ultrasonic pachymeters may be
used to measure central corneal thickness (CCT), which is typically higher in infants with
glaucoma. The CCT affects the lOP measurement, but current evidence is inadequate to
quantify these effects. See also Chapter 15.
Freedman SF. Central corneal thickness in children-does it help or hinder our evaluation of
eyes at risk for glaucoma? J AAPOS. 2008;12(1):1-2.
ANTERIOR SEGMENT EXAMINATION A portable slit lamp allows detailed inspection of the ante-
rior segment. An abnormally deep anterior chamber and hypoplasia of the peripheral iris
stroma are common findings in PCG.
Gonioscopy provides important information regarding the mechanism of glaucoma.
It is best performed with the use of a goniolens and a portable slit lamp or loupes. The
anterior chamber angle of a normal infant's eye (Fig 22-3A) differs from that of an adult
in the following ways:
• The trabecular meshwork is more lightly pigmented.
• The Schwalbe line is often less distinct.
• The uveal meshwork is translucent, so the junction between the scleral spur and the
ciliary body band is often not well seen.
In PCG, the iris often shows an insertion more anterior than that in a normal infant,
and the translucence of the uveal meshwork is altered, making the ciliary body band, tra-
becular meshwork, and scleral spur indistinct. The scalloped border of the iris pigment
epithelium is often unusually prominent, especially when peripheral iris stromal hypopla-
sia is present (Fig 22-3B).
OPTIC NERVE EXAMINATION The optic nerve, when visible, usually shows increased cupping
in PCG. Generalized enlargement of the optic cup in very young patients with glaucoma
A
Figure 22-3 A, The anterior chamber angle of a normal infant's eye, as seen by direct gonios-
copy with a Koeppe lens. B, Typical appearance of the anterior chamber angle of an infant with
congenital glaucoma. (Courtesv of Ken K. Nischal, MD.!
CHAPTER 7: Anterior Chamber and Trabecular Meshwork • 103
Figure 7-3 Congenital glaucoma. Fetal anterior chamber angle demonstrates anterior insertion
of the iris root (red arrow), anteriorly displaced ciliary processes, and a poorly developed scleral
spur (black arrow) and trabecular meshwork (arrowhead). !Courtesy of Tatyana Milman, MD.!
iris strands adherent to the Schwalbe line, iris hypoplasia, corectopia and polycoria, and a
maldeveloped or "fetal" anterior chamber angle (discussed earlier) (Figs 7-4, 7-5). See also
BCSC Section 8, External Disease and Cornea.
Espinoza HM, Cox CJ, Semina EV, Amendt BA. A molecular basis for differential developmen-
tal anomalies in Axenfeld-Rieger syndrome. Hum Mol Genet. 2002;11(7):743-753.
Figure 7-4 Posterior embryotoxon. Light micrograph shows a nodular prominence at the ter-
mination of the Descemet membrane (arrow). TM = trabecular meshwork. !Courtesy of Hans E.
Grossniklaus, MD.)
102 • Ophthalmic Pathology and Intraocular Tumors
Figure 7-2 Normal anterior chamber angle. Gonioscopic landmarks of the anterior chamber
angle with histologic correlation. TM = trabecular meshwork. (Courtesy of Tatyana Mitman, MD.!
canal are nested in the groove formed by the scleral spur and corneoscleral tissue (internal
scleral sulcus). See also Figures 2-lB and 2-2 in BCSC Section 10, Glaucoma.
Congenital Anomalies
BCSC Section 10, Glaucoma, also discusses the conditions described in the following
sections.
Primary Congenital Glaucoma
Primary congenital glaucoma, also referred to as congenital or infantile glaucoma, becomes
evident at birth or within the first few years of life. The pathogenesis of primary congenital
glaucoma may be related to the arrested development of the anterior chamber angle struc-
tures. Histologically, the anterior chamber angle retains an "embryonic" or "fetal" con-
formation, characterized by anterior insertion of the iris root, a poorly developed scleral
spur with insertion of the ciliary body muscle directly into the trabecular meshwork, and
mesenchymal tissue in the anterior chamber angle (Fig 7-3). See BCSC Section 6, Pediatric
Ophthalmology and Strabismus, for detailed discussion.
Anterior Segment Dysgenesis
Anterior segment dysgenesis is the term used for a spectrum of developmental anomalies
resulting from abnormalities of neural crest migration and differentiation during embryo-
logic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus,
and iridoschisis). Maldevelopment of the anterior chamber angle is most prominent in
Axenfeld-Rieger syndrome, an autosomal dominant disorder, which itself encompasses a
spectrum of anomalies, ranging from isolated bilateral ocular defects to a fully manifested
systemic disorder. The single most important clinical feature of Axenfeld-Rieger syn-
drome phenotypes is that they confer at least a 50% risk of developing glaucoma.
Ocular manifestations of Axenfeld-Rieger syndrome include posterior embryotoxon (a
thickened and anteriorly displaced Schwalbe line [termination ofDescemet membrane]),
FIGURE10
Scanningelectronmicrographofnormalangleofa4-year-oldchild.Thisnormaleyewas
removedatthetimeoforbitalexenteration forrhabdomyosarcoma (x80,x250).
TM
IR
FIGURE11
Anglestructuresofinfantileglaucoma,Case1.Becauseoftissuerelaxationafterexcisionof
thespecimen,thethicktrabecularbeamsarenotonthefullstretchthattheywouldbein
life(paraphenylenediamine,x200).
Scanningelectronmicrographofnormalangleofa4-year-oldchild.Thisnormaleyewas
removedatthetimeoforbitalexenteration forrhabdomyosarcoma (x80,x250).
TM
IR
FIGURE11
Anglestructuresofinfantileglaucoma,Case1.Becauseoftissuerelaxationafterexcisionof
thespecimen,thethicktrabecularbeamsarenotonthefullstretchthattheywouldbein
life(paraphenylenediamine,x200).
BARKAN MEMBRANE
474 Anderson
FIGURE13
Scanningelectronmicrographoftheanglesofinfantileglaucoma,Case1,righteye.Thecut
surface isequivalenttotheviewinFigure11.Theinnermostsheetoftrabeculartissue
(encircled,arrows)gavetheappearanceofamembranecoveringthetrabecularmeshwork
whenviewedwiththedissectingmicroscope(x300).
whichfailedtodevelopthenormalopenings.However,thesameappear-
ancecouldresultifseverallayersoftrabeculartissuewerecompressed
togetherandbecameadherenteitherinlifeorduringfixationandtissue
processing.judgingfromthecompressedappearanceofthesubjacent
meshwork,thelatterseemsthemorelikelyexplanation.
Inallfivepost-mortemspecimensexaminedonlyinparaffinsections,
theirisinsertionandanteriorciliarybodyoverlappedtheposteriorpor-
tionofthetrabecularmeshwork.Asinpreviousreports,
3,710,19,20the
degreeoffailureoftheirisandciliarybodytorecedeposteriorlywas
474 Anderson
FIGURE13
Scanningelectronmicrographoftheanglesofinfantileglaucoma,Case1,righteye.Thecut
surface isequivalenttotheviewinFigure11.Theinnermostsheetoftrabeculartissue
(encircled,arrows)gavetheappearanceofamembranecoveringthetrabecularmeshwork
whenviewedwiththedissectingmicroscope(x300).
whichfailedtodevelopthenormalopenings.However,thesameappear-
ancecouldresultifseverallayersoftrabeculartissuewerecompressed
togetherandbecameadherenteitherinlifeorduringfixationandtissue
processing.judgingfromthecompressedappearanceofthesubjacent
meshwork,thelatterseemsthemorelikelyexplanation.
Inallfivepost-mortemspecimensexaminedonlyinparaffinsections,
theirisinsertionandanteriorciliarybodyoverlappedtheposteriorpor-
tionofthetrabecularmeshwork.Asinpreviousreports,
3,710,19,20the
degreeoffailureoftheirisandciliarybodytorecedeposteriorlywas
PATHOGENESIS
➤Barkan membrane (1950s): cellophane-like imperforate
endothelial membrane overlying a band of persistent
mesodermal tissue (uveal meshwork).
➤No longer true
➤Barkan membrane (1950s): cellophane-like imperforate
endothelial membrane overlying a band of persistent
mesodermal tissue (uveal meshwork).
➤No longer true
IRIDODYSGENESIS
➤Maldevelopment of the trabecular meshwork, the anterior
stroma, the full thickness of the iris, the iris vessels, or any
combination of these structures.
➤Normally there is clear malformation of the collarette and
absence of crypts.
➤Iris hypoplasia, correctopia, polycoria
➤Seen in Axenfeld-Reiger syndrome and Aniridia
298
PA RT
4 CLINICAL ENTITIES
(Fig. 19-7), a regular arrangement of vessels is seen looping into
the pupillary axis either in front of or behind the lens. Over time,
attenuation and involution of the vascular veil occur, and contin-
ued clinical surveillance is usually sufficient.
Superficial anomalous iris vessels wander irregularly over the iris
surface (Fig. 19-8) and do not conform to the normal radial con-
figuration of the iris vasculature. The pupil is usually distorted, and
the iris surface has a whorled appearance, often with areas of hypo-
plastic anterior iris stroma. Present at birth, it is unclear whether
these vessels represent an earlier onset of primary congenital glau-
coma or an entirely different syndrome. Eyes with this condition
have a grave prognosis and usually require multiple surgeries.
Structural iris defects
A structural iris defect (Fig. 19-9) may be seen as a small hole
through the iris with no involvement of the sphincter muscle or as
a full-thickness coloboma involving the sphincter. The most severe
structural iris defect is aniridia, in which only a peripheral stump
of iris remains.
Corneodysgenesis
The corneal stretching and clouding that occur as a result of ele-
vated IOP are acquired, not congenital, defects. Congenital corneal
defects may involve the peripheral, midperipheral, or central cor-
nea, or they may appear as abnormalities of corneal size that exist
regardless of whether the IOP is elevated. In most cases, associated
congenital iris abnormalities exist.
In peripheral corneodysgenesis, a condition exists in which
bridging iris filaments or bands attach to a prominent cord-like
Schwalbe’s line (posterior embryotoxin) (see Figs 19-31 and 19-32).
These peripheral abnormalities extend no more than 2 mm into
the clear cornea and usually involve the entire corneal circumfer-
ence. Axenfeld’s anomaly is the classic disorder demonstrating these
abnormalities; however, in the absence of other associated anomalous
defects of the angle, posterior embryotoxin alone is not associated
with glaucoma and can be seen in as many as 8% of normal eyes.
16
Midperipheral lesions are found in addition to the periph-
eral abnormalities in patients with Rieger’s anomaly.
17
The iris is
attached to the cornea in broad areas of apposition that extend out
toward the center of the cornea, and pupillary anomalies and holes
of the iris are common. The cornea is usually opacified in the areas
of the iris adhesions (see Fig. 19-35).
Fig. 19-6 Anterior segment photograph of a patient with Axenfeld’s
anomaly showing a prominent, centrally displaced Schwalbe’s ring with
peripheral iris attachments. There is iris hypoplasia with loss of iris stroma.
(From Campbell DG, Netland PN: Stereo atlas of glaucoma, St Louis, Mosby,
1998.)
Fig. 19-7 Persistence of tunica vasculosa lentis. Blood vessels extend from
peripheral iris and ciliary body to envelop the equator of lens.
Fig. 19-8 Anomalous superficial vessels course irregularly over the
anterior stroma of the iris. The anterior stroma is distorted, and the pupil
may be irregularly shaped.
Fig. 19-9 Structural iris defects may be of a variety of configurations, all
of which are demonstrated in this single iris. Total absence of sphincter
may occur, as shown in the nasal side of this iris. Elliptic openings may
penetrate the anterior stroma or full iris thickness, as seen in the temporal
side of this iris.
298
PA RT
4 CLINICAL ENTITIES
(Fig. 19-7), a regular arrangement of vessels is seen looping into
the pupillary axis either in front of or behind the lens. Over time,
attenuation and involution of the vascular veil occur, and contin-
ued clinical surveillance is usually sufficient.
Superficial anomalous iris vessels wander irregularly over the iris
surface (Fig. 19-8) and do not conform to the normal radial con-
figuration of the iris vasculature. The pupil is usually distorted, and
the iris surface has a whorled appearance, often with areas of hypo-
plastic anterior iris stroma. Present at birth, it is unclear whether
these vessels represent an earlier onset of primary congenital glau-
coma or an entirely different syndrome. Eyes with this condition
have a grave prognosis and usually require multiple surgeries.
Structural iris defects
A structural iris defect (Fig. 19-9) may be seen as a small hole
through the iris with no involvement of the sphincter muscle or as
a full-thickness coloboma involving the sphincter. The most severe
structural iris defect is aniridia, in which only a peripheral stump
of iris remains.
Corneodysgenesis
The corneal stretching and clouding that occur as a result of ele-
vated IOP are acquired, not congenital, defects. Congenital corneal
defects may involve the peripheral, midperipheral, or central cor-
nea, or they may appear as abnormalities of corneal size that exist
regardless of whether the IOP is elevated. In most cases, associated
congenital iris abnormalities exist.
In peripheral corneodysgenesis, a condition exists in which
bridging iris filaments or bands attach to a prominent cord-like
Schwalbe’s line (posterior embryotoxin) (see Figs 19-31 and 19-32).
These peripheral abnormalities extend no more than 2 mm into
the clear cornea and usually involve the entire corneal circumfer-
ence. Axenfeld’s anomaly is the classic disorder demonstrating these
abnormalities; however, in the absence of other associated anomalous
defects of the angle, posterior embryotoxin alone is not associated
with glaucoma and can be seen in as many as 8% of normal eyes.
16
Midperipheral lesions are found in addition to the periph-
eral abnormalities in patients with Rieger’s anomaly.
17
The iris is
attached to the cornea in broad areas of apposition that extend out
toward the center of the cornea, and pupillary anomalies and holes
of the iris are common. The cornea is usually opacified in the areas
of the iris adhesions (see Fig. 19-35).
Fig. 19-6 Anterior segment photograph of a patient with Axenfeld’s
anomaly showing a prominent, centrally displaced Schwalbe’s ring with
peripheral iris attachments. There is iris hypoplasia with loss of iris stroma.
(From Campbell DG, Netland PN: Stereo atlas of glaucoma, St Louis, Mosby,
1998.)
Fig. 19-7 Persistence of tunica vasculosa lentis. Blood vessels extend from
peripheral iris and ciliary body to envelop the equator of lens.
Fig. 19-8 Anomalous superficial vessels course irregularly over the
anterior stroma of the iris. The anterior stroma is distorted, and the pupil
may be irregularly shaped.
Fig. 19-9 Structural iris defects may be of a variety of configurations, all
of which are demonstrated in this single iris. Total absence of sphincter
may occur, as shown in the nasal side of this iris. Elliptic openings may
penetrate the anterior stroma or full iris thickness, as seen in the temporal
side of this iris.
➤Maldevelopment of the trabecular meshwork, the anterior
stroma, the full thickness of the iris, the iris vessels, or any
combination of these structures.
➤Normally there is clear malformation of the collarette and
absence of crypts.
➤Iris hypoplasia, correctopia, polycoria
➤Seen in Axenfeld-Reiger syndrome and Aniridia
298
PA RT
4 CLINICAL ENTITIES
(Fig. 19-7), a regular arrangement of vessels is seen looping into
the pupillary axis either in front of or behind the lens. Over time,
attenuation and involution of the vascular veil occur, and contin-
ued clinical surveillance is usually sufficient.
Superficial anomalous iris vessels wander irregularly over the iris
surface (Fig. 19-8) and do not conform to the normal radial con-
figuration of the iris vasculature. The pupil is usually distorted, and
the iris surface has a whorled appearance, often with areas of hypo-
plastic anterior iris stroma. Present at birth, it is unclear whether
these vessels represent an earlier onset of primary congenital glau-
coma or an entirely different syndrome. Eyes with this condition
have a grave prognosis and usually require multiple surgeries.
Structural iris defects
A structural iris defect (Fig. 19-9) may be seen as a small hole
through the iris with no involvement of the sphincter muscle or as
a full-thickness coloboma involving the sphincter. The most severe
structural iris defect is aniridia, in which only a peripheral stump
of iris remains.
Corneodysgenesis
The corneal stretching and clouding that occur as a result of ele-
vated IOP are acquired, not congenital, defects. Congenital corneal
defects may involve the peripheral, midperipheral, or central cor-
nea, or they may appear as abnormalities of corneal size that exist
regardless of whether the IOP is elevated. In most cases, associated
congenital iris abnormalities exist.
In peripheral corneodysgenesis, a condition exists in which
bridging iris filaments or bands attach to a prominent cord-like
Schwalbe’s line (posterior embryotoxin) (see Figs 19-31 and 19-32).
These peripheral abnormalities extend no more than 2 mm into
the clear cornea and usually involve the entire corneal circumfer-
ence. Axenfeld’s anomaly is the classic disorder demonstrating these
abnormalities; however, in the absence of other associated anomalous
defects of the angle, posterior embryotoxin alone is not associated
with glaucoma and can be seen in as many as 8% of normal eyes.
16
Midperipheral lesions are found in addition to the periph-
eral abnormalities in patients with Rieger’s anomaly.
17
The iris is
attached to the cornea in broad areas of apposition that extend out
toward the center of the cornea, and pupillary anomalies and holes
of the iris are common. The cornea is usually opacified in the areas
of the iris adhesions (see Fig. 19-35).
Fig. 19-6 Anterior segment photograph of a patient with Axenfeld’s
anomaly showing a prominent, centrally displaced Schwalbe’s ring with
peripheral iris attachments. There is iris hypoplasia with loss of iris stroma.
(From Campbell DG, Netland PN: Stereo atlas of glaucoma, St Louis, Mosby,
1998.)
Fig. 19-7 Persistence of tunica vasculosa lentis. Blood vessels extend from
peripheral iris and ciliary body to envelop the equator of lens.
Fig. 19-8 Anomalous superficial vessels course irregularly over the
anterior stroma of the iris. The anterior stroma is distorted, and the pupil
may be irregularly shaped.
Fig. 19-9 Structural iris defects may be of a variety of configurations, all
of which are demonstrated in this single iris. Total absence of sphincter
may occur, as shown in the nasal side of this iris. Elliptic openings may
penetrate the anterior stroma or full iris thickness, as seen in the temporal
side of this iris.
298
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4 CLINICAL ENTITIES
(Fig. 19-7), a regular arrangement of vessels is seen looping into
the pupillary axis either in front of or behind the lens. Over time,
attenuation and involution of the vascular veil occur, and contin-
ued clinical surveillance is usually sufficient.
Superficial anomalous iris vessels wander irregularly over the iris
surface (Fig. 19-8) and do not conform to the normal radial con-
figuration of the iris vasculature. The pupil is usually distorted, and
the iris surface has a whorled appearance, often with areas of hypo-
plastic anterior iris stroma. Present at birth, it is unclear whether
these vessels represent an earlier onset of primary congenital glau-
coma or an entirely different syndrome. Eyes with this condition
have a grave prognosis and usually require multiple surgeries.
Structural iris defects
A structural iris defect (Fig. 19-9) may be seen as a small hole
through the iris with no involvement of the sphincter muscle or as
a full-thickness coloboma involving the sphincter. The most severe
structural iris defect is aniridia, in which only a peripheral stump
of iris remains.
Corneodysgenesis
The corneal stretching and clouding that occur as a result of ele-
vated IOP are acquired, not congenital, defects. Congenital corneal
defects may involve the peripheral, midperipheral, or central cor-
nea, or they may appear as abnormalities of corneal size that exist
regardless of whether the IOP is elevated. In most cases, associated
congenital iris abnormalities exist.
In peripheral corneodysgenesis, a condition exists in which
bridging iris filaments or bands attach to a prominent cord-like
Schwalbe’s line (posterior embryotoxin) (see Figs 19-31 and 19-32).
These peripheral abnormalities extend no more than 2 mm into
the clear cornea and usually involve the entire corneal circumfer-
ence. Axenfeld’s anomaly is the classic disorder demonstrating these
abnormalities; however, in the absence of other associated anomalous
defects of the angle, posterior embryotoxin alone is not associated
with glaucoma and can be seen in as many as 8% of normal eyes.
16
Midperipheral lesions are found in addition to the periph-
eral abnormalities in patients with Rieger’s anomaly.
17
The iris is
attached to the cornea in broad areas of apposition that extend out
toward the center of the cornea, and pupillary anomalies and holes
of the iris are common. The cornea is usually opacified in the areas
of the iris adhesions (see Fig. 19-35).
Fig. 19-6 Anterior segment photograph of a patient with Axenfeld’s
anomaly showing a prominent, centrally displaced Schwalbe’s ring with
peripheral iris attachments. There is iris hypoplasia with loss of iris stroma.
(From Campbell DG, Netland PN: Stereo atlas of glaucoma, St Louis, Mosby,
1998.)
Fig. 19-7 Persistence of tunica vasculosa lentis. Blood vessels extend from
peripheral iris and ciliary body to envelop the equator of lens.
Fig. 19-8 Anomalous superficial vessels course irregularly over the
anterior stroma of the iris. The anterior stroma is distorted, and the pupil
may be irregularly shaped.
Fig. 19-9 Structural iris defects may be of a variety of configurations, all
of which are demonstrated in this single iris. Total absence of sphincter
may occur, as shown in the nasal side of this iris. Elliptic openings may
penetrate the anterior stroma or full iris thickness, as seen in the temporal
side of this iris.
CORNEODYSGENESIS
➤Maldevelopment of the angle, iris and cornea
➤Posterior embryotoxon
➤Iridocorneal adhesions and corneolenticular adhesions.
➤Microcornea or macrocornea
318
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4 CLINICAL ENTITIES
Other ocular abnormalities have been associated less frequently
and include strabismus, cataract, retinal detachment, macular degen-
eration, hypoplasia of the optic nerve, and chorioretinal colobomata.
When the ocular abnormalities are associated with dental,
facial, or other systemic abnormalities, the term Rieger’s syndrome
is applied. Dental and facial anomalies (see Fig. 19-34B) are most
common and include hypodentia, microdentia, and occasional
anodentia; malar hypoplasia; hypertelorism; redundant periumbili-
cal skin, and hypospadias. Other systemic anomalies include short
stature, heart defects, neurologic problems, empty sella syndrome,
deafness, and mental deficiency.
Because there may be overlap of the phenotypic presentations
of Rieger’s and Axenfeld’s syndromes in the same family,
264
they
are sometimes treated as a single but protean syndrome called
the Axenfeld-Rieger’s syndrome.
17,260,265
Linkage studies reveal a
heterogeneous genetic picture; for example, the Rieger’s anomaly
does not always map consistently to the 4q chromosome, as does
Rieger’s syndrome.
266
This suggests either the two phenotypic
Rieger’s phenomena are genetically distinct despite their clinical
similarities, or that multiple genetic defects can cause both Rieger’s
anomaly and Rieger’s syndrome.
9
The cytogenetics and molecular
genetics of these disorders are complex and evolving.
265,267
Glaucoma in the Axenfeld-Rieger’s syndromes occurs in approx-
imately 50% of affected individuals. The glaucoma may occur in
infancy due to trabeculodysgenesis, but is usually delayed into the
first or second decade of life. In infants, a goniotomy or trabeculot-
omy is the indicated surgical procedure. In older children, medical
therapy should be tried before any surgical procedures. If surgery
is necessary, the surgeon can choose a trabeculectomy with anti-
metabolite,
189
combined trabeculectomy-with-trabeculotomy,
268
or glaucoma tube procedure.
269
PETER’S ANOMALY
Peter’s anomaly (Fig. 19-36) manifests as bilateral central corneal
opacification with adhesions of the central iris to the posterior surface
of the cornea. Frequently, these iris attachments arise from the collar-
ette and attach to the cornea, where there is an absence of Descemet’s
membrane and thinning of the posterior corneal stroma.
270
In
extreme cases, the lens can adhere to the corneal endothelium, with a
cataract present. One classification distinguishes Peter’s eyes with nor-
mal lenses (type I) from a type with abnormal lenses (type II).
271
This
condition has also been called anterior chamber cleavage syndrome.
2
Approximately half of the patients with Peter’s anomaly have
ocular defects, and 60% have systemic defects.
272
The ocular find-
ings in Peter’s anomaly include microphthalmos, myopia, aniridia,
and cataract.
273
It has been genetically linked to the same mutation
at the PAX6 locus as the aniridia gene in one study, although over-
lap of phenotypic expression is not prominent.
9
Retinal detach-
ment occurs spontaneously in up to 10% of patients.
274
Systemic findings include developmental delay, congenital heart
disease, congenital ear anomalies and hearing loss, genitourinary
defects, cleft palate, and spinal defects.
274
The ‘Peter’s-plus syn-
drome’ includes Peter’s anomaly, short stature, small hands, mental
retardation, abnormal ears, and cleft lip and palate; it is inherited as
an autosomal recessive and is the same as Kivlin syndrome.
275
Glaucoma occurs in up to 50% of Peter’s anomaly eyes and may
be present even when the anterior chamber angle appears grossly
normal, although trabeculodysgenesis may be present. The glau-
coma may be first seen in infancy or later in life. When glaucoma
exists in infants, goniotomy, trabeculotomy, and trabeculectomy
have been used, with the preferred procedure individualized to
each patient. Medical therapy is important in older children and
Fig. 19-36 Central corneal opacity in Peter’s anomaly.
Fig. 19-35 Iris adhesion to posterior embryotoxon in Axenfeld’s anomaly (A) results in pupillary distortion (B).
(A) (B)
318
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4 CLINICAL ENTITIES
Other ocular abnormalities have been associated less frequently
and include strabismus, cataract, retinal detachment, macular degen-
eration, hypoplasia of the optic nerve, and chorioretinal colobomata.
When the ocular abnormalities are associated with dental,
facial, or other systemic abnormalities, the term Rieger’s syndrome
is applied. Dental and facial anomalies (see Fig. 19-34B) are most
common and include hypodentia, microdentia, and occasional
anodentia; malar hypoplasia; hypertelorism; redundant periumbili-
cal skin, and hypospadias. Other systemic anomalies include short
stature, heart defects, neurologic problems, empty sella syndrome,
deafness, and mental deficiency.
Because there may be overlap of the phenotypic presentations
of Rieger’s and Axenfeld’s syndromes in the same family,
264
they
are sometimes treated as a single but protean syndrome called
the Axenfeld-Rieger’s syndrome.
17,260,265
Linkage studies reveal a
heterogeneous genetic picture; for example, the Rieger’s anomaly
does not always map consistently to the 4q chromosome, as does
Rieger’s syndrome.
266
This suggests either the two phenotypic
Rieger’s phenomena are genetically distinct despite their clinical
similarities, or that multiple genetic defects can cause both Rieger’s
anomaly and Rieger’s syndrome.
9
The cytogenetics and molecular
genetics of these disorders are complex and evolving.
265,267
Glaucoma in the Axenfeld-Rieger’s syndromes occurs in approx-
imately 50% of affected individuals. The glaucoma may occur in
infancy due to trabeculodysgenesis, but is usually delayed into the
first or second decade of life. In infants, a goniotomy or trabeculot-
omy is the indicated surgical procedure. In older children, medical
therapy should be tried before any surgical procedures. If surgery
is necessary, the surgeon can choose a trabeculectomy with anti-
metabolite,
189
combined trabeculectomy-with-trabeculotomy,
268
or glaucoma tube procedure.
269
PETER’S ANOMALY
Peter’s anomaly (Fig. 19-36) manifests as bilateral central corneal
opacification with adhesions of the central iris to the posterior surface
of the cornea. Frequently, these iris attachments arise from the collar-
ette and attach to the cornea, where there is an absence of Descemet’s
membrane and thinning of the posterior corneal stroma.
270
In
extreme cases, the lens can adhere to the corneal endothelium, with a
cataract present. One classification distinguishes Peter’s eyes with nor-
mal lenses (type I) from a type with abnormal lenses (type II).
271
This
condition has also been called anterior chamber cleavage syndrome.
2
Approximately half of the patients with Peter’s anomaly have
ocular defects, and 60% have systemic defects.
272
The ocular find-
ings in Peter’s anomaly include microphthalmos, myopia, aniridia,
and cataract.
273
It has been genetically linked to the same mutation
at the PAX6 locus as the aniridia gene in one study, although over-
lap of phenotypic expression is not prominent.
9
Retinal detach-
ment occurs spontaneously in up to 10% of patients.
274
Systemic findings include developmental delay, congenital heart
disease, congenital ear anomalies and hearing loss, genitourinary
defects, cleft palate, and spinal defects.
274
The ‘Peter’s-plus syn-
drome’ includes Peter’s anomaly, short stature, small hands, mental
retardation, abnormal ears, and cleft lip and palate; it is inherited as
an autosomal recessive and is the same as Kivlin syndrome.
275
Glaucoma occurs in up to 50% of Peter’s anomaly eyes and may
be present even when the anterior chamber angle appears grossly
normal, although trabeculodysgenesis may be present. The glau-
coma may be first seen in infancy or later in life. When glaucoma
exists in infants, goniotomy, trabeculotomy, and trabeculectomy
have been used, with the preferred procedure individualized to
each patient. Medical therapy is important in older children and
Fig. 19-36 Central corneal opacity in Peter’s anomaly.
Fig. 19-35 Iris adhesion to posterior embryotoxon in Axenfeld’s anomaly (A) results in pupillary distortion (B).
(A) (B)
➤Maldevelopment of the angle, iris and cornea
➤Posterior embryotoxon
➤Iridocorneal adhesions and corneolenticular adhesions.
➤Microcornea or macrocornea
318
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4 CLINICAL ENTITIES
Other ocular abnormalities have been associated less frequently
and include strabismus, cataract, retinal detachment, macular degen-
eration, hypoplasia of the optic nerve, and chorioretinal colobomata.
When the ocular abnormalities are associated with dental,
facial, or other systemic abnormalities, the term Rieger’s syndrome
is applied. Dental and facial anomalies (see Fig. 19-34B) are most
common and include hypodentia, microdentia, and occasional
anodentia; malar hypoplasia; hypertelorism; redundant periumbili-
cal skin, and hypospadias. Other systemic anomalies include short
stature, heart defects, neurologic problems, empty sella syndrome,
deafness, and mental deficiency.
Because there may be overlap of the phenotypic presentations
of Rieger’s and Axenfeld’s syndromes in the same family,
264
they
are sometimes treated as a single but protean syndrome called
the Axenfeld-Rieger’s syndrome.
17,260,265
Linkage studies reveal a
heterogeneous genetic picture; for example, the Rieger’s anomaly
does not always map consistently to the 4q chromosome, as does
Rieger’s syndrome.
266
This suggests either the two phenotypic
Rieger’s phenomena are genetically distinct despite their clinical
similarities, or that multiple genetic defects can cause both Rieger’s
anomaly and Rieger’s syndrome.
9
The cytogenetics and molecular
genetics of these disorders are complex and evolving.
265,267
Glaucoma in the Axenfeld-Rieger’s syndromes occurs in approx-
imately 50% of affected individuals. The glaucoma may occur in
infancy due to trabeculodysgenesis, but is usually delayed into the
first or second decade of life. In infants, a goniotomy or trabeculot-
omy is the indicated surgical procedure. In older children, medical
therapy should be tried before any surgical procedures. If surgery
is necessary, the surgeon can choose a trabeculectomy with anti-
metabolite,
189
combined trabeculectomy-with-trabeculotomy,
268
or glaucoma tube procedure.
269
PETER’S ANOMALY
Peter’s anomaly (Fig. 19-36) manifests as bilateral central corneal
opacification with adhesions of the central iris to the posterior surface
of the cornea. Frequently, these iris attachments arise from the collar-
ette and attach to the cornea, where there is an absence of Descemet’s
membrane and thinning of the posterior corneal stroma.
270
In
extreme cases, the lens can adhere to the corneal endothelium, with a
cataract present. One classification distinguishes Peter’s eyes with nor-
mal lenses (type I) from a type with abnormal lenses (type II).
271
This
condition has also been called anterior chamber cleavage syndrome.
2
Approximately half of the patients with Peter’s anomaly have
ocular defects, and 60% have systemic defects.
272
The ocular find-
ings in Peter’s anomaly include microphthalmos, myopia, aniridia,
and cataract.
273
It has been genetically linked to the same mutation
at the PAX6 locus as the aniridia gene in one study, although over-
lap of phenotypic expression is not prominent.
9
Retinal detach-
ment occurs spontaneously in up to 10% of patients.
274
Systemic findings include developmental delay, congenital heart
disease, congenital ear anomalies and hearing loss, genitourinary
defects, cleft palate, and spinal defects.
274
The ‘Peter’s-plus syn-
drome’ includes Peter’s anomaly, short stature, small hands, mental
retardation, abnormal ears, and cleft lip and palate; it is inherited as
an autosomal recessive and is the same as Kivlin syndrome.
275
Glaucoma occurs in up to 50% of Peter’s anomaly eyes and may
be present even when the anterior chamber angle appears grossly
normal, although trabeculodysgenesis may be present. The glau-
coma may be first seen in infancy or later in life. When glaucoma
exists in infants, goniotomy, trabeculotomy, and trabeculectomy
have been used, with the preferred procedure individualized to
each patient. Medical therapy is important in older children and
Fig. 19-36 Central corneal opacity in Peter’s anomaly.
Fig. 19-35 Iris adhesion to posterior embryotoxon in Axenfeld’s anomaly (A) results in pupillary distortion (B).
(A) (B)
318
PA RT
4 CLINICAL ENTITIES
Other ocular abnormalities have been associated less frequently
and include strabismus, cataract, retinal detachment, macular degen-
eration, hypoplasia of the optic nerve, and chorioretinal colobomata.
When the ocular abnormalities are associated with dental,
facial, or other systemic abnormalities, the term Rieger’s syndrome
is applied. Dental and facial anomalies (see Fig. 19-34B) are most
common and include hypodentia, microdentia, and occasional
anodentia; malar hypoplasia; hypertelorism; redundant periumbili-
cal skin, and hypospadias. Other systemic anomalies include short
stature, heart defects, neurologic problems, empty sella syndrome,
deafness, and mental deficiency.
Because there may be overlap of the phenotypic presentations
of Rieger’s and Axenfeld’s syndromes in the same family,
264
they
are sometimes treated as a single but protean syndrome called
the Axenfeld-Rieger’s syndrome.
17,260,265
Linkage studies reveal a
heterogeneous genetic picture; for example, the Rieger’s anomaly
does not always map consistently to the 4q chromosome, as does
Rieger’s syndrome.
266
This suggests either the two phenotypic
Rieger’s phenomena are genetically distinct despite their clinical
similarities, or that multiple genetic defects can cause both Rieger’s
anomaly and Rieger’s syndrome.
9
The cytogenetics and molecular
genetics of these disorders are complex and evolving.
265,267
Glaucoma in the Axenfeld-Rieger’s syndromes occurs in approx-
imately 50% of affected individuals. The glaucoma may occur in
infancy due to trabeculodysgenesis, but is usually delayed into the
first or second decade of life. In infants, a goniotomy or trabeculot-
omy is the indicated surgical procedure. In older children, medical
therapy should be tried before any surgical procedures. If surgery
is necessary, the surgeon can choose a trabeculectomy with anti-
metabolite,
189
combined trabeculectomy-with-trabeculotomy,
268
or glaucoma tube procedure.
269
PETER’S ANOMALY
Peter’s anomaly (Fig. 19-36) manifests as bilateral central corneal
opacification with adhesions of the central iris to the posterior surface
of the cornea. Frequently, these iris attachments arise from the collar-
ette and attach to the cornea, where there is an absence of Descemet’s
membrane and thinning of the posterior corneal stroma.
270
In
extreme cases, the lens can adhere to the corneal endothelium, with a
cataract present. One classification distinguishes Peter’s eyes with nor-
mal lenses (type I) from a type with abnormal lenses (type II).
271
This
condition has also been called anterior chamber cleavage syndrome.
2
Approximately half of the patients with Peter’s anomaly have
ocular defects, and 60% have systemic defects.
272
The ocular find-
ings in Peter’s anomaly include microphthalmos, myopia, aniridia,
and cataract.
273
It has been genetically linked to the same mutation
at the PAX6 locus as the aniridia gene in one study, although over-
lap of phenotypic expression is not prominent.
9
Retinal detach-
ment occurs spontaneously in up to 10% of patients.
274
Systemic findings include developmental delay, congenital heart
disease, congenital ear anomalies and hearing loss, genitourinary
defects, cleft palate, and spinal defects.
274
The ‘Peter’s-plus syn-
drome’ includes Peter’s anomaly, short stature, small hands, mental
retardation, abnormal ears, and cleft lip and palate; it is inherited as
an autosomal recessive and is the same as Kivlin syndrome.
275
Glaucoma occurs in up to 50% of Peter’s anomaly eyes and may
be present even when the anterior chamber angle appears grossly
normal, although trabeculodysgenesis may be present. The glau-
coma may be first seen in infancy or later in life. When glaucoma
exists in infants, goniotomy, trabeculotomy, and trabeculectomy
have been used, with the preferred procedure individualized to
each patient. Medical therapy is important in older children and
Fig. 19-36 Central corneal opacity in Peter’s anomaly.
Fig. 19-35 Iris adhesion to posterior embryotoxon in Axenfeld’s anomaly (A) results in pupillary distortion (B).
(A) (B)
CLINICAL PRESENTATION
History
➤Onset: At birth or the first few months
➤Triad: Epiphora, blepharospasm and photophobia
➤May or may not have megalocornea or hazy cornea depending
on how severe and delayed the condition is.
History
➤Onset: At birth or the first few months
➤Triad: Epiphora, blepharospasm and photophobia
➤May or may not have megalocornea or hazy cornea depending
on how severe and delayed the condition is.
DDX
280 • Pediatric Ophthalmology and Strabismus
Table 22-2 Differential Diagnosis of Signs in Primary Congenital Glaucoma
Conditions sharing signs of epiphora and red eye
Conjunctivitis
Congenital nasolacrimal duct obstruction
Corneal epithelial defect/abrasion
Keratitis
Ocular inflammation (uveitis, trauma, foreign body)
Conditions sharing sign of corneal edema or opacification
Corneal dystrophy: congenital hereditary endothelial dystrophy, posterior polymorphous
dystrophy
Obstetric birth trauma with Descemet tears
Storage disease: mucopolysaccharidoses, cystinosis, sphingolipidosis
Congenital anomalies: sclerocornea, Peters anomaly, choristomas
Keratitis: maternal rubella, herpes, phlyctenules
Keratomalacia (vitamin A deficiency)
Skin disorders affecting the cornea: congenital ichthyosis, congenital dyskeratosis
Idiopathic (diagnosis of exclusion only)
Conditions sharing sign of corneal enlargement
Axial myopia
Megalocornea
Conditions sharing sign of optic nerve cupping (real or apparent)
Physiologic optic nerve cupping
Cupping associated with prematurity, periventricular leukomalacia
Optic nerve coloboma
Optic atrophy
Optic nerve hypoplasia
Optic nerve malformation
Adapted with permission from Buckley EG. Primary congenital open-angle glaucoma. In: Kahook M,
Schuman J, eds. Chandler and Grant's Glaucoma. 5th ed. Thorofare, NJ: Slack Incorporated; 2013.
Figure 22-2 A, Breaks in Descemet membrane (Haab striae), right eye. B, Retroillumination,
same eye.
The normal mean IOP in infants and young children is lower than in adults: between
10 and 12 mm Hg in newborns and approximately 14 mm Hg by age 7-8 years. In PCG,
lOP commonly ranges between 30 and 40 mm Hg, and it is usually greater than 20 mm Hg
even under anesthesia. Asymmetric lOP readings in a quiet or anesthetized child should
raise suspicion of glaucoma.
280 • Pediatric Ophthalmology and Strabismus
Table 22-2 Differential Diagnosis of Signs in Primary Congenital Glaucoma
Conditions sharing signs of epiphora and red eye
Conjunctivitis
Congenital nasolacrimal duct obstruction
Corneal epithelial defect/abrasion
Keratitis
Ocular inflammation (uveitis, trauma, foreign body)
Conditions sharing sign of corneal edema or opacification
Corneal dystrophy: congenital hereditary endothelial dystrophy, posterior polymorphous
dystrophy
Obstetric birth trauma with Descemet tears
Storage disease: mucopolysaccharidoses, cystinosis, sphingolipidosis
Congenital anomalies: sclerocornea, Peters anomaly, choristomas
Keratitis: maternal rubella, herpes, phlyctenules
Keratomalacia (vitamin A deficiency)
Skin disorders affecting the cornea: congenital ichthyosis, congenital dyskeratosis
Idiopathic (diagnosis of exclusion only)
Conditions sharing sign of corneal enlargement
Axial myopia
Megalocornea
Conditions sharing sign of optic nerve cupping (real or apparent)
Physiologic optic nerve cupping
Cupping associated with prematurity, periventricular leukomalacia
Optic nerve coloboma
Optic atrophy
Optic nerve hypoplasia
Optic nerve malformation
Adapted with permission from Buckley EG. Primary congenital open-angle glaucoma. In: Kahook M,
Schuman J, eds. Chandler and Grant's Glaucoma. 5th ed. Thorofare, NJ: Slack Incorporated; 2013.
Figure 22-2 A, Breaks in Descemet membrane (Haab striae), right eye. B, Retroillumination,
same eye.
The normal mean IOP in infants and young children is lower than in adults: between
10 and 12 mm Hg in newborns and approximately 14 mm Hg by age 7-8 years. In PCG,
lOP commonly ranges between 30 and 40 mm Hg, and it is usually greater than 20 mm Hg
even under anesthesia. Asymmetric lOP readings in a quiet or anesthetized child should
raise suspicion of glaucoma.
CLINICAL PRESENTATION
Examination (EUA):
➤ IOP:
301
CHAPTER
19Developmental and childhood glaucoma
various measuring principles: applanation (Goldmann or hand-held
Perkins); indentation (Schiøtz); indentation-applanation hybrid
(pneumotonometer); non-contact air-puff (Keeler Pulsair), or elec-
tronic (TonoPen or Mackay-Marg). Results among instruments
vary.
In a large series of unanesthetized healthy children from birth
through age 16 measured with the Pulsair device, three different
phases of the IOP were identified:
1. Neonatal phase. Up to age 1, the average IOP was 10 mmHg,
without gender differences, and unrelated to gestational age or
birth weight.
2. Phase of increased IOP values. An exponential curve of rising
IOPs up to age 7–8, rising faster in boys until age 4 and continu-
ing more slowly in girls to age 9 was seen.
3. Phase of steady IOPs. From age 8 onward, females had higher
IOPs than males, with ‘adult’ values obtained by mid adolescence.
25
Different instrumentation yielded similar trends but with wide
variability (Table 19-1).
When validated by intraoperative manometry under anesthesia, the
Perkins applanation device tended to underestimate IOP (especially
in the supine position), the TonoPen slightly overestimated IOP, and
the pneumotonometer was most accurate.
29
In another study of
children under anesthesia,
30
the Schiøtz tonometer gave the high-
est readings; moreover, it is also subject to many artifacts affecting its
reliability, such as altered scleral rigidity, small corneal size, or surface
abnormalities. Although only one tonometer is indispensable for
examinations under anesthesia, another device or two is advisable
to double check the measurement and confirm a tendency toward
elevation or asymmetry with respect to the fellow eye.
General anesthetics lower IOP to variable amounts and at vari-
able times after administration (Table 19-2).
31
Intraocular pressure
measurements should be taken as soon as the child is quiet, and
the precise interval in minutes between onset of anesthesia and the
pressure measurements should be noted. Laryngeal mask anesthesia
is a valuable alternative to tracheal intubation,
36
with the added
feature of causing significantly less IOP elevation at the time of
extubation in both normal and glaucomatous eyes.
34,35,37,38
The
laryngeal mask is particularly useful in EUAs with children because
it simultaneously protects the patient’s airway and allows the exam-
iner unhindered access to both eyes for complete evaluation, such
as Koeppe gonioscopy. A mask with an oral airway is also adequate
and safe for short examinations. Intramuscular ketamine can be
administered in younger children when examination is for diagno-
sis only; intravenous administration may raise the IOP slightly.
As in the management of adult primary open-angle glaucoma, it
is best to place the measured IOP into a clinical context, giving spe-
cial weight to trends or to asymmetric measurements between two
eyes. The diagnosis of glaucoma depends on several factors, only one
of which is the pressure level. Elevated IOP by itself, unless extreme,
is insufficient to confirm the diagnosis of glaucoma.
To confirm a diagnosis of glaucoma and justify surgery, it is nec-
essary to verify other signs, such as increased corneal diameter, cor-
neal haze, increased cup-to-disc ratio, evidence of anterior segment
dysgenesis, or glaucoma in the fellow eye. Otherwise, it is better to
re-examine the child in 4–6 weeks to confirm the diagnosis before
performing surgery.
Corneal measurements: diameter and central thickness
As with IOP, there is no absolute normal limit for the corneal
diameter among children, although growth trends are evident
(Table 19-3). Measuring the corneal diameters, both horizon-
tally and vertically, is a fundamental part of childhood glaucoma
assessment (Fig. 19-14). A good baseline measurement is required
both for initial diagnosis and for detection of subsequent corneal
enlargement. An effective measurement of the corneal diameter can
be obtained using calipers to measure the horizontal diameter from
the first appearance of the white scleral fibers at the limbus on one
Table 19-1 Intraocular pressures (mmHg) among normal
awake children using different tonometers
Age Pulsair
(SD)*
Perkins
(SD)†
Pneumotonometer
(SD)†
Premature
(26–37
weeks)
10.2‡ 18.3§ –
0–1 year 10.6 (3.1) 4.6 (0.5) 14.5 (0.5)
1–2 years 12.0 (3.2) 4.9 (0.5) 14.6 (0.6)
2–3 years 12.6 (1.5) 5.8 (1.0) 15.3 (1.4)
3–4 years 13.7 (2.1) 6.4 (1.8) 14.5 (0.9)
4–5 years 13.6 (2.0) 7.9 (1.3) 14.8 (2.0)
5–6 years 14.4 (2.0) – –
6–7 years 14.2 (2.3) – –
7–8 years 14.0 (2.5) – –
8–9 years 14.3 (1.7) – –
9–10 years 14.0 (2.7) – –
15–16 years 15.2 (2.4) 13.2 16.42 (2.2)
*Data from Pensiero et al
25
;
†Jaafar & Kazi
26
;
‡Spierer et al
27
;
§Musarella & Morin.
28
Table 19-2 Effect of anesthetics and sedatives on
intraocular pressure
Anesthetic agent Route of
administration
Usual effect on
IOP
Chloral hydrate Oral or rectal Nil
Midazolam Rectal,
intramuscular (IM),
intravenous (IV)
Decrease
Methohexital
(Brevital)
Rectal, IM, IV Decrease
Nitrous oxide Inhalation Mild decrease
Oxygen Inhalation Mild decrease
Inhaled
fluorocarbons
(e.g., halothane,
enflurane)
Inhalation Mild–significant
decrease
Ketamine IM Modest elevation
Succinylcholine IV Significant
elevation
Compared to
endotracheal
intubation
– Significant
elevation
Data from Freedman & Walton
8
; Murphy
32
; Watcha et al
33
; Lamb et al
34
;
Barclay et al.
35
301
CHAPTER
19Developmental and childhood glaucoma
various measuring principles: applanation (Goldmann or hand-held
Perkins); indentation (Schiøtz); indentation-applanation hybrid
(pneumotonometer); non-contact air-puff (Keeler Pulsair), or elec-
tronic (TonoPen or Mackay-Marg). Results among instruments
vary.
In a large series of unanesthetized healthy children from birth
through age 16 measured with the Pulsair device, three different
phases of the IOP were identified:
1. Neonatal phase. Up to age 1, the average IOP was 10 mmHg,
without gender differences, and unrelated to gestational age or
birth weight.
2. Phase of increased IOP values. An exponential curve of rising
IOPs up to age 7–8, rising faster in boys until age 4 and continu-
ing more slowly in girls to age 9 was seen.
3. Phase of steady IOPs. From age 8 onward, females had higher
IOPs than males, with ‘adult’ values obtained by mid adolescence.
25
Different instrumentation yielded similar trends but with wide
variability (Table 19-1).
When validated by intraoperative manometry under anesthesia, the
Perkins applanation device tended to underestimate IOP (especially
in the supine position), the TonoPen slightly overestimated IOP, and
the pneumotonometer was most accurate.
29
In another study of
children under anesthesia,
30
the Schiøtz tonometer gave the high-
est readings; moreover, it is also subject to many artifacts affecting its
reliability, such as altered scleral rigidity, small corneal size, or surface
abnormalities. Although only one tonometer is indispensable for
examinations under anesthesia, another device or two is advisable
to double check the measurement and confirm a tendency toward
elevation or asymmetry with respect to the fellow eye.
General anesthetics lower IOP to variable amounts and at vari-
able times after administration (Table 19-2).
31
Intraocular pressure
measurements should be taken as soon as the child is quiet, and
the precise interval in minutes between onset of anesthesia and the
pressure measurements should be noted. Laryngeal mask anesthesia
is a valuable alternative to tracheal intubation,
36
with the added
feature of causing significantly less IOP elevation at the time of
extubation in both normal and glaucomatous eyes.
34,35,37,38
The
laryngeal mask is particularly useful in EUAs with children because
it simultaneously protects the patient’s airway and allows the exam-
iner unhindered access to both eyes for complete evaluation, such
as Koeppe gonioscopy. A mask with an oral airway is also adequate
and safe for short examinations. Intramuscular ketamine can be
administered in younger children when examination is for diagno-
sis only; intravenous administration may raise the IOP slightly.
As in the management of adult primary open-angle glaucoma, it
is best to place the measured IOP into a clinical context, giving spe-
cial weight to trends or to asymmetric measurements between two
eyes. The diagnosis of glaucoma depends on several factors, only one
of which is the pressure level. Elevated IOP by itself, unless extreme,
is insufficient to confirm the diagnosis of glaucoma.
To confirm a diagnosis of glaucoma and justify surgery, it is nec-
essary to verify other signs, such as increased corneal diameter, cor-
neal haze, increased cup-to-disc ratio, evidence of anterior segment
dysgenesis, or glaucoma in the fellow eye. Otherwise, it is better to
re-examine the child in 4–6 weeks to confirm the diagnosis before
performing surgery.
Corneal measurements: diameter and central thickness
As with IOP, there is no absolute normal limit for the corneal
diameter among children, although growth trends are evident
(Table 19-3). Measuring the corneal diameters, both horizon-
tally and vertically, is a fundamental part of childhood glaucoma
assessment (Fig. 19-14). A good baseline measurement is required
both for initial diagnosis and for detection of subsequent corneal
enlargement. An effective measurement of the corneal diameter can
be obtained using calipers to measure the horizontal diameter from
the first appearance of the white scleral fibers at the limbus on one
Table 19-1 Intraocular pressures (mmHg) among normal
awake children using different tonometers
Age Pulsair
(SD)*
Perkins
(SD)†
Pneumotonometer
(SD)†
Premature
(26–37
weeks)
10.2‡ 18.3§ –
0–1 year 10.6 (3.1) 4.6 (0.5) 14.5 (0.5)
1–2 years 12.0 (3.2) 4.9 (0.5) 14.6 (0.6)
2–3 years 12.6 (1.5) 5.8 (1.0) 15.3 (1.4)
3–4 years 13.7 (2.1) 6.4 (1.8) 14.5 (0.9)
4–5 years 13.6 (2.0) 7.9 (1.3) 14.8 (2.0)
5–6 years 14.4 (2.0) – –
6–7 years 14.2 (2.3) – –
7–8 years 14.0 (2.5) – –
8–9 years 14.3 (1.7) – –
9–10 years 14.0 (2.7) – –
15–16 years 15.2 (2.4) 13.2 16.42 (2.2)
*Data from Pensiero et al
25
;
†Jaafar & Kazi
26
;
‡Spierer et al
27
;
§Musarella & Morin.
28
Table 19-2 Effect of anesthetics and sedatives on
intraocular pressure
Anesthetic agent Route of
administration
Usual effect on
IOP
Chloral hydrate Oral or rectal Nil
Midazolam Rectal,
intramuscular (IM),
intravenous (IV)
Decrease
Methohexital
(Brevital)
Rectal, IM, IV Decrease
Nitrous oxide Inhalation Mild decrease
Oxygen Inhalation Mild decrease
Inhaled
fluorocarbons
(e.g., halothane,
enflurane)
Inhalation Mild–significant
decrease
Ketamine IM Modest elevation
Succinylcholine IV Significant
elevation
Compared to
endotracheal
intubation
– Significant
elevation
Data from Freedman & Walton
8
; Murphy
32
; Watcha et al
33
; Lamb et al
34
;
Barclay et al.
35
Examination (EUA):
➤ IOP:
301
CHAPTER
19Developmental and childhood glaucoma
various measuring principles: applanation (Goldmann or hand-held
Perkins); indentation (Schiøtz); indentation-applanation hybrid
(pneumotonometer); non-contact air-puff (Keeler Pulsair), or elec-
tronic (TonoPen or Mackay-Marg). Results among instruments
vary.
In a large series of unanesthetized healthy children from birth
through age 16 measured with the Pulsair device, three different
phases of the IOP were identified:
1. Neonatal phase. Up to age 1, the average IOP was 10 mmHg,
without gender differences, and unrelated to gestational age or
birth weight.
2. Phase of increased IOP values. An exponential curve of rising
IOPs up to age 7–8, rising faster in boys until age 4 and continu-
ing more slowly in girls to age 9 was seen.
3. Phase of steady IOPs. From age 8 onward, females had higher
IOPs than males, with ‘adult’ values obtained by mid adolescence.
25
Different instrumentation yielded similar trends but with wide
variability (Table 19-1).
When validated by intraoperative manometry under anesthesia, the
Perkins applanation device tended to underestimate IOP (especially
in the supine position), the TonoPen slightly overestimated IOP, and
the pneumotonometer was most accurate.
29
In another study of
children under anesthesia,
30
the Schiøtz tonometer gave the high-
est readings; moreover, it is also subject to many artifacts affecting its
reliability, such as altered scleral rigidity, small corneal size, or surface
abnormalities. Although only one tonometer is indispensable for
examinations under anesthesia, another device or two is advisable
to double check the measurement and confirm a tendency toward
elevation or asymmetry with respect to the fellow eye.
General anesthetics lower IOP to variable amounts and at vari-
able times after administration (Table 19-2).
31
Intraocular pressure
measurements should be taken as soon as the child is quiet, and
the precise interval in minutes between onset of anesthesia and the
pressure measurements should be noted. Laryngeal mask anesthesia
is a valuable alternative to tracheal intubation,
36
with the added
feature of causing significantly less IOP elevation at the time of
extubation in both normal and glaucomatous eyes.
34,35,37,38
The
laryngeal mask is particularly useful in EUAs with children because
it simultaneously protects the patient’s airway and allows the exam-
iner unhindered access to both eyes for complete evaluation, such
as Koeppe gonioscopy. A mask with an oral airway is also adequate
and safe for short examinations. Intramuscular ketamine can be
administered in younger children when examination is for diagno-
sis only; intravenous administration may raise the IOP slightly.
As in the management of adult primary open-angle glaucoma, it
is best to place the measured IOP into a clinical context, giving spe-
cial weight to trends or to asymmetric measurements between two
eyes. The diagnosis of glaucoma depends on several factors, only one
of which is the pressure level. Elevated IOP by itself, unless extreme,
is insufficient to confirm the diagnosis of glaucoma.
To confirm a diagnosis of glaucoma and justify surgery, it is nec-
essary to verify other signs, such as increased corneal diameter, cor-
neal haze, increased cup-to-disc ratio, evidence of anterior segment
dysgenesis, or glaucoma in the fellow eye. Otherwise, it is better to
re-examine the child in 4–6 weeks to confirm the diagnosis before
performing surgery.
Corneal measurements: diameter and central thickness
As with IOP, there is no absolute normal limit for the corneal
diameter among children, although growth trends are evident
(Table 19-3). Measuring the corneal diameters, both horizon-
tally and vertically, is a fundamental part of childhood glaucoma
assessment (Fig. 19-14). A good baseline measurement is required
both for initial diagnosis and for detection of subsequent corneal
enlargement. An effective measurement of the corneal diameter can
be obtained using calipers to measure the horizontal diameter from
the first appearance of the white scleral fibers at the limbus on one
Table 19-1 Intraocular pressures (mmHg) among normal
awake children using different tonometers
Age Pulsair
(SD)*
Perkins
(SD)†
Pneumotonometer
(SD)†
Premature
(26–37
weeks)
10.2‡ 18.3§ –
0–1 year 10.6 (3.1) 4.6 (0.5) 14.5 (0.5)
1–2 years 12.0 (3.2) 4.9 (0.5) 14.6 (0.6)
2–3 years 12.6 (1.5) 5.8 (1.0) 15.3 (1.4)
3–4 years 13.7 (2.1) 6.4 (1.8) 14.5 (0.9)
4–5 years 13.6 (2.0) 7.9 (1.3) 14.8 (2.0)
5–6 years 14.4 (2.0) – –
6–7 years 14.2 (2.3) – –
7–8 years 14.0 (2.5) – –
8–9 years 14.3 (1.7) – –
9–10 years 14.0 (2.7) – –
15–16 years 15.2 (2.4) 13.2 16.42 (2.2)
*Data from Pensiero et al
25
;
†Jaafar & Kazi
26
;
‡Spierer et al
27
;
§Musarella & Morin.
28
Table 19-2 Effect of anesthetics and sedatives on
intraocular pressure
Anesthetic agent Route of
administration
Usual effect on
IOP
Chloral hydrate Oral or rectal Nil
Midazolam Rectal,
intramuscular (IM),
intravenous (IV)
Decrease
Methohexital
(Brevital)
Rectal, IM, IV Decrease
Nitrous oxide Inhalation Mild decrease
Oxygen Inhalation Mild decrease
Inhaled
fluorocarbons
(e.g., halothane,
enflurane)
Inhalation Mild–significant
decrease
Ketamine IM Modest elevation
Succinylcholine IV Significant
elevation
Compared to
endotracheal
intubation
– Significant
elevation
Data from Freedman & Walton
8
; Murphy
32
; Watcha et al
33
; Lamb et al
34
;
Barclay et al.
35
301
CHAPTER
19Developmental and childhood glaucoma
various measuring principles: applanation (Goldmann or hand-held
Perkins); indentation (Schiøtz); indentation-applanation hybrid
(pneumotonometer); non-contact air-puff (Keeler Pulsair), or elec-
tronic (TonoPen or Mackay-Marg). Results among instruments
vary.
In a large series of unanesthetized healthy children from birth
through age 16 measured with the Pulsair device, three different
phases of the IOP were identified:
1. Neonatal phase. Up to age 1, the average IOP was 10 mmHg,
without gender differences, and unrelated to gestational age or
birth weight.
2. Phase of increased IOP values. An exponential curve of rising
IOPs up to age 7–8, rising faster in boys until age 4 and continu-
ing more slowly in girls to age 9 was seen.
3. Phase of steady IOPs. From age 8 onward, females had higher
IOPs than males, with ‘adult’ values obtained by mid adolescence.
25
Different instrumentation yielded similar trends but with wide
variability (Table 19-1).
When validated by intraoperative manometry under anesthesia, the
Perkins applanation device tended to underestimate IOP (especially
in the supine position), the TonoPen slightly overestimated IOP, and
the pneumotonometer was most accurate.
29
In another study of
children under anesthesia,
30
the Schiøtz tonometer gave the high-
est readings; moreover, it is also subject to many artifacts affecting its
reliability, such as altered scleral rigidity, small corneal size, or surface
abnormalities. Although only one tonometer is indispensable for
examinations under anesthesia, another device or two is advisable
to double check the measurement and confirm a tendency toward
elevation or asymmetry with respect to the fellow eye.
General anesthetics lower IOP to variable amounts and at vari-
able times after administration (Table 19-2).
31
Intraocular pressure
measurements should be taken as soon as the child is quiet, and
the precise interval in minutes between onset of anesthesia and the
pressure measurements should be noted. Laryngeal mask anesthesia
is a valuable alternative to tracheal intubation,
36
with the added
feature of causing significantly less IOP elevation at the time of
extubation in both normal and glaucomatous eyes.
34,35,37,38
The
laryngeal mask is particularly useful in EUAs with children because
it simultaneously protects the patient’s airway and allows the exam-
iner unhindered access to both eyes for complete evaluation, such
as Koeppe gonioscopy. A mask with an oral airway is also adequate
and safe for short examinations. Intramuscular ketamine can be
administered in younger children when examination is for diagno-
sis only; intravenous administration may raise the IOP slightly.
As in the management of adult primary open-angle glaucoma, it
is best to place the measured IOP into a clinical context, giving spe-
cial weight to trends or to asymmetric measurements between two
eyes. The diagnosis of glaucoma depends on several factors, only one
of which is the pressure level. Elevated IOP by itself, unless extreme,
is insufficient to confirm the diagnosis of glaucoma.
To confirm a diagnosis of glaucoma and justify surgery, it is nec-
essary to verify other signs, such as increased corneal diameter, cor-
neal haze, increased cup-to-disc ratio, evidence of anterior segment
dysgenesis, or glaucoma in the fellow eye. Otherwise, it is better to
re-examine the child in 4–6 weeks to confirm the diagnosis before
performing surgery.
Corneal measurements: diameter and central thickness
As with IOP, there is no absolute normal limit for the corneal
diameter among children, although growth trends are evident
(Table 19-3). Measuring the corneal diameters, both horizon-
tally and vertically, is a fundamental part of childhood glaucoma
assessment (Fig. 19-14). A good baseline measurement is required
both for initial diagnosis and for detection of subsequent corneal
enlargement. An effective measurement of the corneal diameter can
be obtained using calipers to measure the horizontal diameter from
the first appearance of the white scleral fibers at the limbus on one
Table 19-1 Intraocular pressures (mmHg) among normal
awake children using different tonometers
Age Pulsair
(SD)*
Perkins
(SD)†
Pneumotonometer
(SD)†
Premature
(26–37
weeks)
10.2‡ 18.3§ –
0–1 year 10.6 (3.1) 4.6 (0.5) 14.5 (0.5)
1–2 years 12.0 (3.2) 4.9 (0.5) 14.6 (0.6)
2–3 years 12.6 (1.5) 5.8 (1.0) 15.3 (1.4)
3–4 years 13.7 (2.1) 6.4 (1.8) 14.5 (0.9)
4–5 years 13.6 (2.0) 7.9 (1.3) 14.8 (2.0)
5–6 years 14.4 (2.0) – –
6–7 years 14.2 (2.3) – –
7–8 years 14.0 (2.5) – –
8–9 years 14.3 (1.7) – –
9–10 years 14.0 (2.7) – –
15–16 years 15.2 (2.4) 13.2 16.42 (2.2)
*Data from Pensiero et al
25
;
†Jaafar & Kazi
26
;
‡Spierer et al
27
;
§Musarella & Morin.
28
Table 19-2 Effect of anesthetics and sedatives on
intraocular pressure
Anesthetic agent Route of
administration
Usual effect on
IOP
Chloral hydrate Oral or rectal Nil
Midazolam Rectal,
intramuscular (IM),
intravenous (IV)
Decrease
Methohexital
(Brevital)
Rectal, IM, IV Decrease
Nitrous oxide Inhalation Mild decrease
Oxygen Inhalation Mild decrease
Inhaled
fluorocarbons
(e.g., halothane,
enflurane)
Inhalation Mild–significant
decrease
Ketamine IM Modest elevation
Succinylcholine IV Significant
elevation
Compared to
endotracheal
intubation
– Significant
elevation
Data from Freedman & Walton
8
; Murphy
32
; Watcha et al
33
; Lamb et al
34
;
Barclay et al.
35
CLINICAL PRESENTATION
Examination (EUA):
➤ Corneal diameter: Megalocornea as a result of stretching at
the corneoscleral junction (i.e. stretched limbus). Diameter is
measured from white to white.
➤Corneal thickness: Normally thicker than adults (550um).
Can be significantly higher with corneal edema.
302
PA RT
4 CLINICAL ENTITIES
and have been reported in eyes with glaucoma with aniridia
4,51
and in eyes status-post-congenital cataract surgery.
5,52
Although
examinations under anesthesia often require specula to pry the lids
for several minutes, with some possible corneal drying, the clinical
impact on CCT measures is negligible.
6,53
The value of pachymet-
ric measures of CCT in infantile glaucoma, though not completely
clarified, is nevertheless useful.
When examining the cornea, the ophthalmologist must look for
corneal haziness and tears of Descemet’s membrane. Tears involv-
ing the visual axis, as evident during retinoscopy, must be noted
because they can adversely affect a child’s visual acuity and con-
tribute to developing amblyopia.
Axial length measurement
The measurement of axial length by A-scan ultrasonography has
been recommended by some investigators for routine use in the
diagnosis and follow-up of congenital glaucoma, contending that
it is a sensitive and reversible measure of disease.
40,54–56
Others
assert that the corneal diameter measurement, besides being
easier to measure using simpler equipment, is the most significant
clinical feature in detecting congenital glaucoma.
39,57
One retro-
spective study suggests that the major contribution of both axial
measures and corneal diameters is in the initial diagnostic stages of
glaucoma management, but neither parameter distinguished which
patients would require re-operation, especially after the age of 2
years.
58
Table 19-3 Corneal diameters and axial lengths among normal eyes and eyes suspicious for glaucoma
Age Corneal diameters (mm) Axial length (mm)
Normal Possible glaucoma Normal Possible glaucoma
Newborns 9.5–10.5 11.5–12.0 16–17 20
1 year 10–11.5 12.0–12.5 20.1 22.5
2 years 11.5–12 12.5–13.0 21.3 23
3 years – – 22.1 24
3 years 12 13.0–14.0 23 25
Data from Morin
12
; Kiskis et al
39
; Sampaolesi & Caruso R
40
; Fledelius & Christensen.
41
Fig. 19-14 Congenital glaucoma
examination series. (A) Corneal
measurement. (B) View through a
Swan-Jacobs lens into the angle of a
child with primary infantile glaucoma.
(B from Alward WLM: Color atlas of
gonioscopy, San Francisco, 2000,
Foundation of American Academy of
Ophthalmology.)(A) (B)
side to the same point on the other side, from the 9 o’clock to 3
o’clock positions. This is then repeated vertically from 6 o’clock to
12 o’clock. The measurement is accurate to approximately 0.5 mm;
therefore with this technique, changes of less than 0.5 mm should
not be considered significant. Some authors prefer customized
templates in increments of 0.25 mm for greater precision.
28
The measurement of the central corneal thickness (CCT) of adult
eyes with primary open-angle glaucoma has a major impact on the
clinician’s assessment for two reasons: (1) applanation IOP readings
are profoundly affected by the CCT (viz., thicker CCTs ‘overesti-
mate’ and thinner CCTs ‘underestimate’ true IOPs), and (2) there
is a significant risk factor for developing glaucoma damage, inde-
pendent of IOP corrections, with thinner CCTs.
1–25,28–31,34–38,42–47
One confounding factor in applying CCT findings in children with
glaucoma is the apparent slight thickening of the infant cornea until
adult values are reached between age 5–9 years old.
48
Nevertheless, the clinical effect of CCT measures on the IOP in
children is similar to that seen in adults, with thicker corneas seen
with ocular hypertension and thinner CCTs on average among
black children than in whites.
49,49a,49b
One large study comparing
children under 3 years old – those status-post-congenital glaucoma
surgery versus age-related normals undergoing nasolacrimal dila-
tion – demonstrated thinner CCT measurements in glaucomatous
eyes, which positively correlated with their larger corneal diameters
and longer axial lengths.
50,50a
On the other hand, thick CCTs are
expected in eyes with significant corneal edema from elevated IOP,
Examination (EUA):
➤ Corneal diameter: Megalocornea as a result of stretching at
the corneoscleral junction (i.e. stretched limbus). Diameter is
measured from white to white.
➤Corneal thickness: Normally thicker than adults (550um).
Can be significantly higher with corneal edema.
302
PA RT
4 CLINICAL ENTITIES
and have been reported in eyes with glaucoma with aniridia
4,51
and in eyes status-post-congenital cataract surgery.
5,52
Although
examinations under anesthesia often require specula to pry the lids
for several minutes, with some possible corneal drying, the clinical
impact on CCT measures is negligible.
6,53
The value of pachymet-
ric measures of CCT in infantile glaucoma, though not completely
clarified, is nevertheless useful.
When examining the cornea, the ophthalmologist must look for
corneal haziness and tears of Descemet’s membrane. Tears involv-
ing the visual axis, as evident during retinoscopy, must be noted
because they can adversely affect a child’s visual acuity and con-
tribute to developing amblyopia.
Axial length measurement
The measurement of axial length by A-scan ultrasonography has
been recommended by some investigators for routine use in the
diagnosis and follow-up of congenital glaucoma, contending that
it is a sensitive and reversible measure of disease.
40,54–56
Others
assert that the corneal diameter measurement, besides being
easier to measure using simpler equipment, is the most significant
clinical feature in detecting congenital glaucoma.
39,57
One retro-
spective study suggests that the major contribution of both axial
measures and corneal diameters is in the initial diagnostic stages of
glaucoma management, but neither parameter distinguished which
patients would require re-operation, especially after the age of 2
years.
58
Table 19-3 Corneal diameters and axial lengths among normal eyes and eyes suspicious for glaucoma
Age Corneal diameters (mm) Axial length (mm)
Normal Possible glaucoma Normal Possible glaucoma
Newborns 9.5–10.5 11.5–12.0 16–17 20
1 year 10–11.5 12.0–12.5 20.1 22.5
2 years 11.5–12 12.5–13.0 21.3 23
3 years – – 22.1 24
3 years 12 13.0–14.0 23 25
Data from Morin
12
; Kiskis et al
39
; Sampaolesi & Caruso R
40
; Fledelius & Christensen.
41
Fig. 19-14 Congenital glaucoma
examination series. (A) Corneal
measurement. (B) View through a
Swan-Jacobs lens into the angle of a
child with primary infantile glaucoma.
(B from Alward WLM: Color atlas of
gonioscopy, San Francisco, 2000,
Foundation of American Academy of
Ophthalmology.)(A) (B)
side to the same point on the other side, from the 9 o’clock to 3
o’clock positions. This is then repeated vertically from 6 o’clock to
12 o’clock. The measurement is accurate to approximately 0.5 mm;
therefore with this technique, changes of less than 0.5 mm should
not be considered significant. Some authors prefer customized
templates in increments of 0.25 mm for greater precision.
28
The measurement of the central corneal thickness (CCT) of adult
eyes with primary open-angle glaucoma has a major impact on the
clinician’s assessment for two reasons: (1) applanation IOP readings
are profoundly affected by the CCT (viz., thicker CCTs ‘overesti-
mate’ and thinner CCTs ‘underestimate’ true IOPs), and (2) there
is a significant risk factor for developing glaucoma damage, inde-
pendent of IOP corrections, with thinner CCTs.
1–25,28–31,34–38,42–47
One confounding factor in applying CCT findings in children with
glaucoma is the apparent slight thickening of the infant cornea until
adult values are reached between age 5–9 years old.
48
Nevertheless, the clinical effect of CCT measures on the IOP in
children is similar to that seen in adults, with thicker corneas seen
with ocular hypertension and thinner CCTs on average among
black children than in whites.
49,49a,49b
One large study comparing
children under 3 years old – those status-post-congenital glaucoma
surgery versus age-related normals undergoing nasolacrimal dila-
tion – demonstrated thinner CCT measurements in glaucomatous
eyes, which positively correlated with their larger corneal diameters
and longer axial lengths.
50,50a
On the other hand, thick CCTs are
expected in eyes with significant corneal edema from elevated IOP,
CLINICAL PRESENTATION
Examination (EUA):
➤ Haab’s striae: Breaks in
decemet’s membrane (railroad
tracks, curvilinear).
➤Endothelium migrates to cover
the defects, allowing edema to
clear.
➤However, results in
astigmatism.
299
CHAPTER
19Developmental and childhood glaucoma
Central corneal anomalies may show evidence of adhesions
between the collarette of the iris and the posterior aspect of the
central cornea. The cornea usually is opacified centrally and may be
thinned. Occasionally a corneal fistula forms. An area of clear cornea
between the central defect and the corneal scleral limbus is common.
These corneal defects have been called a variety of names, including
Peter’s anomaly, posterior ulcer of von Hippel, and posterior kera-
toconus (see Fig. 19-36). Often distinctions among corneal opaci-
fications can be made clinically with high-resolution ultrasound
biomicroscopy.
18
Abnormalities of corneal size may occur as microcornea or mac-
rocornea. Microcornea may be seen in a variety of congenital anom-
alies, including microphthalmos, nanophthalmos, Rieger’s anomaly,
persistent hyperplastic primary vitreous, and congenital rubella
syndrome. Macrocornea is seen in patients with Axenfeld’s syndrome
or in X-linked recessive megalocornea. It is distinguished from the
corneal stretching resulting from increased IOP by the absence of
tears in Descemet’s membrane. The prognosis for control of glau-
coma in eyes with corneodysgenesis is considerably worse than in
eyes with isolated trabeculodysgenesis.
CLINICAL PRESENTATION
As compared with older children and adults, the infant with glau-
coma has unique signs and symptoms, including epiphora, pho-
tophobia, and blepharospasm, which are present regardless of the
cause of the glaucoma and are due to irritation that accompanies
corneal epithelial edema caused by elevated IOP. A hazy appear-
ance of the cornea can be intermittent in the early stages and can
precede breaks in Descemet’s membrane (Fig. 19-10).
Enlargement of these eyes occurs under the influence of elevated
IOP, with enlargement mainly at the corneoscleral junction. As the
cornea stretches, ruptures of Descemet’s membrane allow influx of
aqueous into the corneal stroma and epithelium, causing a sudden
increase in edema and haze and an increase of tearing and photopho-
bia. The child may become irritable. Large eyes often are not a con-
cern to parents because they are believed to enhance the beauty of
the child. But to the ophthalmologist, large eyes are a warning sign.
The breaks in Descemet’s membrane (Haab’s striae) are single or
multiple and appear as glassy parallel ridges (‘railroad tracks’) on
the posterior cornea. The breaks may present in the peripheral cor-
nea concentric with the limbus or in various orientations near or
across the central visual axis (Fig. 19-11). The corneal endothelium
will migrate over the defect, allowing the edema to clear; however,
irregular astigmatism may persist and interfere with vision.
If IOP is uncontrolled, tearing, photophobia, and blepharo-
spasm worsen. Continued enlargement of the cornea from tears of
Descemet’s membrane may lead to corneal scarring, erosions, and
ulcerations. Stretching and ruptures of the zonules can cause lens sub-
luxation. Blunt trauma in these enlarged eyes may result in hyphema
and rupture of the globe. Phthisis bulbi may be the final outcome.
After the child is approximately 3–4 years of age, continued
enlargement of the globe is less common. The posterior sclera,
however, still may be elastic enough to cause a progressive myopia
as a result of elevated IOP. Increasing myopia is common in chil-
dren, but in conjunction with large corneas, suspicious pressures, or
discs, it should prompt consideration of glaucoma.
Occasionally, the older child will experience pain with glau-
coma, but this is unusual. Most commonly, there are no symptoms
until visual field defects become symptomatic. Because diagnosis
before symptoms appear is desirable, routine examination of the
optic nerve should be performed in all children during preschool
examination.
Tonometry should be performed in children who can cooperate
(Fig. 19-12). When pacified, nursing infants can often be topically
anesthetized and undergo non-contact (e.g., Keeler Pulsair) or con-
tact (e.g., TonoPen, pneumotonometer) tonometry; the non-contact
tonometer can be used as a ‘game’ in children under 6 years of age.
19
In children who cannot cooperate for tonometry, further evaluation
with the aid of sedation or general anesthesia is warranted. With or
without sedation, examination of the optic nerve is needed to reveal
suspected or significant damage from elevated IOP.
EXAMINATION
Office examination
Depending on the age and level of cooperation of the patient, general
anesthesia may be required to evaluate the child with glaucoma.
20,21
Fig. 19-10 This child has subtle clouding and enlargement of the right
cornea. At this point, there are no breaks in Descemet’s membrane.
Although pressures are elevated in this case of developmental glaucoma,
photophobia is minimal.
Fig. 19-11 Haab’s striae in primary infantile glaucoma. These breaks in
Descemet’s membrane are usually oriented horizontally (as seen here) or
circumferentially. Vertical breaks may be seen in obstetric injuries following
forceps deliveries.
(From Alward WLM: Color atlas of gonioscopy, San Francisco, 2000,
Foundation of American Academy of Ophthalmology.)
Examination (EUA):
➤ Haab’s striae: Breaks in
decemet’s membrane (railroad
tracks, curvilinear).
➤Endothelium migrates to cover
the defects, allowing edema to
clear.
➤However, results in
astigmatism.
299
CHAPTER
19Developmental and childhood glaucoma
Central corneal anomalies may show evidence of adhesions
between the collarette of the iris and the posterior aspect of the
central cornea. The cornea usually is opacified centrally and may be
thinned. Occasionally a corneal fistula forms. An area of clear cornea
between the central defect and the corneal scleral limbus is common.
These corneal defects have been called a variety of names, including
Peter’s anomaly, posterior ulcer of von Hippel, and posterior kera-
toconus (see Fig. 19-36). Often distinctions among corneal opaci-
fications can be made clinically with high-resolution ultrasound
biomicroscopy.
18
Abnormalities of corneal size may occur as microcornea or mac-
rocornea. Microcornea may be seen in a variety of congenital anom-
alies, including microphthalmos, nanophthalmos, Rieger’s anomaly,
persistent hyperplastic primary vitreous, and congenital rubella
syndrome. Macrocornea is seen in patients with Axenfeld’s syndrome
or in X-linked recessive megalocornea. It is distinguished from the
corneal stretching resulting from increased IOP by the absence of
tears in Descemet’s membrane. The prognosis for control of glau-
coma in eyes with corneodysgenesis is considerably worse than in
eyes with isolated trabeculodysgenesis.
CLINICAL PRESENTATION
As compared with older children and adults, the infant with glau-
coma has unique signs and symptoms, including epiphora, pho-
tophobia, and blepharospasm, which are present regardless of the
cause of the glaucoma and are due to irritation that accompanies
corneal epithelial edema caused by elevated IOP. A hazy appear-
ance of the cornea can be intermittent in the early stages and can
precede breaks in Descemet’s membrane (Fig. 19-10).
Enlargement of these eyes occurs under the influence of elevated
IOP, with enlargement mainly at the corneoscleral junction. As the
cornea stretches, ruptures of Descemet’s membrane allow influx of
aqueous into the corneal stroma and epithelium, causing a sudden
increase in edema and haze and an increase of tearing and photopho-
bia. The child may become irritable. Large eyes often are not a con-
cern to parents because they are believed to enhance the beauty of
the child. But to the ophthalmologist, large eyes are a warning sign.
The breaks in Descemet’s membrane (Haab’s striae) are single or
multiple and appear as glassy parallel ridges (‘railroad tracks’) on
the posterior cornea. The breaks may present in the peripheral cor-
nea concentric with the limbus or in various orientations near or
across the central visual axis (Fig. 19-11). The corneal endothelium
will migrate over the defect, allowing the edema to clear; however,
irregular astigmatism may persist and interfere with vision.
If IOP is uncontrolled, tearing, photophobia, and blepharo-
spasm worsen. Continued enlargement of the cornea from tears of
Descemet’s membrane may lead to corneal scarring, erosions, and
ulcerations. Stretching and ruptures of the zonules can cause lens sub-
luxation. Blunt trauma in these enlarged eyes may result in hyphema
and rupture of the globe. Phthisis bulbi may be the final outcome.
After the child is approximately 3–4 years of age, continued
enlargement of the globe is less common. The posterior sclera,
however, still may be elastic enough to cause a progressive myopia
as a result of elevated IOP. Increasing myopia is common in chil-
dren, but in conjunction with large corneas, suspicious pressures, or
discs, it should prompt consideration of glaucoma.
Occasionally, the older child will experience pain with glau-
coma, but this is unusual. Most commonly, there are no symptoms
until visual field defects become symptomatic. Because diagnosis
before symptoms appear is desirable, routine examination of the
optic nerve should be performed in all children during preschool
examination.
Tonometry should be performed in children who can cooperate
(Fig. 19-12). When pacified, nursing infants can often be topically
anesthetized and undergo non-contact (e.g., Keeler Pulsair) or con-
tact (e.g., TonoPen, pneumotonometer) tonometry; the non-contact
tonometer can be used as a ‘game’ in children under 6 years of age.
19
In children who cannot cooperate for tonometry, further evaluation
with the aid of sedation or general anesthesia is warranted. With or
without sedation, examination of the optic nerve is needed to reveal
suspected or significant damage from elevated IOP.
EXAMINATION
Office examination
Depending on the age and level of cooperation of the patient, general
anesthesia may be required to evaluate the child with glaucoma.
20,21
Fig. 19-10 This child has subtle clouding and enlargement of the right
cornea. At this point, there are no breaks in Descemet’s membrane.
Although pressures are elevated in this case of developmental glaucoma,
photophobia is minimal.
Fig. 19-11 Haab’s striae in primary infantile glaucoma. These breaks in
Descemet’s membrane are usually oriented horizontally (as seen here) or
circumferentially. Vertical breaks may be seen in obstetric injuries following
forceps deliveries.
(From Alward WLM: Color atlas of gonioscopy, San Francisco, 2000,
Foundation of American Academy of Ophthalmology.)
CLINICAL PRESENTATION
Examination (EUA):
➤Gonioscopy (Koeppe’s lens): Anterior iris insertion or
posterior with absent angle recess (no scleral spur no ciliary
body band).
➤Epithelial edema can be improved with glycerine drops or
even mechanical debridement of the epithelium.
CHAPTER 22: Pediatric Glaucomas • 281
MEASUREMENT OF CENTRAL CORNEAL THICKNESS Portable ultrasonic pachymeters may be
used to measure central corneal thickness (CCT), which is typically higher in infants with
glaucoma. The CCT affects the lOP measurement, but current evidence is inadequate to
quantify these effects. See also Chapter 15.
Freedman SF. Central corneal thickness in children-does it help or hinder our evaluation of
eyes at risk for glaucoma? J AAPOS. 2008;12(1):1-2.
ANTERIOR SEGMENT EXAMINATION A portable slit lamp allows detailed inspection of the ante-
rior segment. An abnormally deep anterior chamber and hypoplasia of the peripheral iris
stroma are common findings in PCG.
Gonioscopy provides important information regarding the mechanism of glaucoma.
It is best performed with the use of a goniolens and a portable slit lamp or loupes. The
anterior chamber angle of a normal infant's eye (Fig 22-3A) differs from that of an adult
in the following ways:
• The trabecular meshwork is more lightly pigmented.
• The Schwalbe line is often less distinct.
• The uveal meshwork is translucent, so the junction between the scleral spur and the
ciliary body band is often not well seen.
In PCG, the iris often shows an insertion more anterior than that in a normal infant,
and the translucence of the uveal meshwork is altered, making the ciliary body band, tra-
becular meshwork, and scleral spur indistinct. The scalloped border of the iris pigment
epithelium is often unusually prominent, especially when peripheral iris stromal hypopla-
sia is present (Fig 22-3B).
OPTIC NERVE EXAMINATION The optic nerve, when visible, usually shows increased cupping
in PCG. Generalized enlargement of the optic cup in very young patients with glaucoma
A
Figure 22-3 A, The anterior chamber angle of a normal infant's eye, as seen by direct gonios-
copy with a Koeppe lens. B, Typical appearance of the anterior chamber angle of an infant with
congenital glaucoma. (Courtesv of Ken K. Nischal, MD.!
Examination (EUA):
➤Gonioscopy (Koeppe’s lens): Anterior iris insertion or
posterior with absent angle recess (no scleral spur no ciliary
body band).
➤Epithelial edema can be improved with glycerine drops or
even mechanical debridement of the epithelium.
CHAPTER 22: Pediatric Glaucomas • 281
MEASUREMENT OF CENTRAL CORNEAL THICKNESS Portable ultrasonic pachymeters may be
used to measure central corneal thickness (CCT), which is typically higher in infants with
glaucoma. The CCT affects the lOP measurement, but current evidence is inadequate to
quantify these effects. See also Chapter 15.
Freedman SF. Central corneal thickness in children-does it help or hinder our evaluation of
eyes at risk for glaucoma? J AAPOS. 2008;12(1):1-2.
ANTERIOR SEGMENT EXAMINATION A portable slit lamp allows detailed inspection of the ante-
rior segment. An abnormally deep anterior chamber and hypoplasia of the peripheral iris
stroma are common findings in PCG.
Gonioscopy provides important information regarding the mechanism of glaucoma.
It is best performed with the use of a goniolens and a portable slit lamp or loupes. The
anterior chamber angle of a normal infant's eye (Fig 22-3A) differs from that of an adult
in the following ways:
• The trabecular meshwork is more lightly pigmented.
• The Schwalbe line is often less distinct.
• The uveal meshwork is translucent, so the junction between the scleral spur and the
ciliary body band is often not well seen.
In PCG, the iris often shows an insertion more anterior than that in a normal infant,
and the translucence of the uveal meshwork is altered, making the ciliary body band, tra-
becular meshwork, and scleral spur indistinct. The scalloped border of the iris pigment
epithelium is often unusually prominent, especially when peripheral iris stromal hypopla-
sia is present (Fig 22-3B).
OPTIC NERVE EXAMINATION The optic nerve, when visible, usually shows increased cupping
in PCG. Generalized enlargement of the optic cup in very young patients with glaucoma
A
Figure 22-3 A, The anterior chamber angle of a normal infant's eye, as seen by direct gonios-
copy with a Koeppe lens. B, Typical appearance of the anterior chamber angle of an infant with
congenital glaucoma. (Courtesv of Ken K. Nischal, MD.!
CLINICAL PRESENTATION
Examination (EUA):
➤Axial length
302
PA RT
4 CLINICAL ENTITIES
and have been reported in eyes with glaucoma with aniridia
4,51
and in eyes status-post-congenital cataract surgery.
5,52
Although
examinations under anesthesia often require specula to pry the lids
for several minutes, with some possible corneal drying, the clinical
impact on CCT measures is negligible.
6,53
The value of pachymet-
ric measures of CCT in infantile glaucoma, though not completely
clarified, is nevertheless useful.
When examining the cornea, the ophthalmologist must look for
corneal haziness and tears of Descemet’s membrane. Tears involv-
ing the visual axis, as evident during retinoscopy, must be noted
because they can adversely affect a child’s visual acuity and con-
tribute to developing amblyopia.
Axial length measurement
The measurement of axial length by A-scan ultrasonography has
been recommended by some investigators for routine use in the
diagnosis and follow-up of congenital glaucoma, contending that
it is a sensitive and reversible measure of disease.
40,54–56
Others
assert that the corneal diameter measurement, besides being
easier to measure using simpler equipment, is the most significant
clinical feature in detecting congenital glaucoma.
39,57
One retro-
spective study suggests that the major contribution of both axial
measures and corneal diameters is in the initial diagnostic stages of
glaucoma management, but neither parameter distinguished which
patients would require re-operation, especially after the age of 2
years.
58
Table 19-3 Corneal diameters and axial lengths among normal eyes and eyes suspicious for glaucoma
Age Corneal diameters (mm) Axial length (mm)
Normal Possible glaucoma Normal Possible glaucoma
Newborns 9.5–10.5 11.5–12.0 16–17 20
1 year 10–11.5 12.0–12.5 20.1 22.5
2 years 11.5–12 12.5–13.0 21.3 23
3 years – – 22.1 24
3 years 12 13.0–14.0 23 25
Data from Morin
12
; Kiskis et al
39
; Sampaolesi & Caruso R
40
; Fledelius & Christensen.
41
Fig. 19-14 Congenital glaucoma
examination series. (A) Corneal
measurement. (B) View through a
Swan-Jacobs lens into the angle of a
child with primary infantile glaucoma.
(B from Alward WLM: Color atlas of
gonioscopy, San Francisco, 2000,
Foundation of American Academy of
Ophthalmology.)(A) (B)
side to the same point on the other side, from the 9 o’clock to 3
o’clock positions. This is then repeated vertically from 6 o’clock to
12 o’clock. The measurement is accurate to approximately 0.5 mm;
therefore with this technique, changes of less than 0.5 mm should
not be considered significant. Some authors prefer customized
templates in increments of 0.25 mm for greater precision.
28
The measurement of the central corneal thickness (CCT) of adult
eyes with primary open-angle glaucoma has a major impact on the
clinician’s assessment for two reasons: (1) applanation IOP readings
are profoundly affected by the CCT (viz., thicker CCTs ‘overesti-
mate’ and thinner CCTs ‘underestimate’ true IOPs), and (2) there
is a significant risk factor for developing glaucoma damage, inde-
pendent of IOP corrections, with thinner CCTs.
1–25,28–31,34–38,42–47
One confounding factor in applying CCT findings in children with
glaucoma is the apparent slight thickening of the infant cornea until
adult values are reached between age 5–9 years old.
48
Nevertheless, the clinical effect of CCT measures on the IOP in
children is similar to that seen in adults, with thicker corneas seen
with ocular hypertension and thinner CCTs on average among
black children than in whites.
49,49a,49b
One large study comparing
children under 3 years old – those status-post-congenital glaucoma
surgery versus age-related normals undergoing nasolacrimal dila-
tion – demonstrated thinner CCT measurements in glaucomatous
eyes, which positively correlated with their larger corneal diameters
and longer axial lengths.
50,50a
On the other hand, thick CCTs are
expected in eyes with significant corneal edema from elevated IOP, 302
PA RT
4 CLINICAL ENTITIES
and have been reported in eyes with glaucoma with aniridia
4,51
and in eyes status-post-congenital cataract surgery.
5,52
Although
examinations under anesthesia often require specula to pry the lids
for several minutes, with some possible corneal drying, the clinical
impact on CCT measures is negligible.
6,53
The value of pachymet-
ric measures of CCT in infantile glaucoma, though not completely
clarified, is nevertheless useful.
When examining the cornea, the ophthalmologist must look for
corneal haziness and tears of Descemet’s membrane. Tears involv-
ing the visual axis, as evident during retinoscopy, must be noted
because they can adversely affect a child’s visual acuity and con-
tribute to developing amblyopia.
Axial length measurement
The measurement of axial length by A-scan ultrasonography has
been recommended by some investigators for routine use in the
diagnosis and follow-up of congenital glaucoma, contending that
it is a sensitive and reversible measure of disease.
40,54–56
Others
assert that the corneal diameter measurement, besides being
easier to measure using simpler equipment, is the most significant
clinical feature in detecting congenital glaucoma.
39,57
One retro-
spective study suggests that the major contribution of both axial
measures and corneal diameters is in the initial diagnostic stages of
glaucoma management, but neither parameter distinguished which
patients would require re-operation, especially after the age of 2
years.
58
Table 19-3 Corneal diameters and axial lengths among normal eyes and eyes suspicious for glaucoma
Age Corneal diameters (mm) Axial length (mm)
Normal Possible glaucoma Normal Possible glaucoma
Newborns 9.5–10.5 11.5–12.0 16–17 20
1 year 10–11.5 12.0–12.5 20.1 22.5
2 years 11.5–12 12.5–13.0 21.3 23
3 years – – 22.1 24
3 years 12 13.0–14.0 23 25
Data from Morin
12
; Kiskis et al
39
; Sampaolesi & Caruso R
40
; Fledelius & Christensen.
41
Fig. 19-14 Congenital glaucoma
examination series. (A) Corneal
measurement. (B) View through a
Swan-Jacobs lens into the angle of a
child with primary infantile glaucoma.
(B from Alward WLM: Color atlas of
gonioscopy, San Francisco, 2000,
Foundation of American Academy of
Ophthalmology.)(A) (B)
side to the same point on the other side, from the 9 o’clock to 3
o’clock positions. This is then repeated vertically from 6 o’clock to
12 o’clock. The measurement is accurate to approximately 0.5 mm;
therefore with this technique, changes of less than 0.5 mm should
not be considered significant. Some authors prefer customized
templates in increments of 0.25 mm for greater precision.
28
The measurement of the central corneal thickness (CCT) of adult
eyes with primary open-angle glaucoma has a major impact on the
clinician’s assessment for two reasons: (1) applanation IOP readings
are profoundly affected by the CCT (viz., thicker CCTs ‘overesti-
mate’ and thinner CCTs ‘underestimate’ true IOPs), and (2) there
is a significant risk factor for developing glaucoma damage, inde-
pendent of IOP corrections, with thinner CCTs.
1–25,28–31,34–38,42–47
One confounding factor in applying CCT findings in children with
glaucoma is the apparent slight thickening of the infant cornea until
adult values are reached between age 5–9 years old.
48
Nevertheless, the clinical effect of CCT measures on the IOP in
children is similar to that seen in adults, with thicker corneas seen
with ocular hypertension and thinner CCTs on average among
black children than in whites.
49,49a,49b
One large study comparing
children under 3 years old – those status-post-congenital glaucoma
surgery versus age-related normals undergoing nasolacrimal dila-
tion – demonstrated thinner CCT measurements in glaucomatous
eyes, which positively correlated with their larger corneal diameters
and longer axial lengths.
50,50a
On the other hand, thick CCTs are
expected in eyes with significant corneal edema from elevated IOP,
Examination (EUA):
➤Axial length
302
PA RT
4 CLINICAL ENTITIES
and have been reported in eyes with glaucoma with aniridia
4,51
and in eyes status-post-congenital cataract surgery.
5,52
Although
examinations under anesthesia often require specula to pry the lids
for several minutes, with some possible corneal drying, the clinical
impact on CCT measures is negligible.
6,53
The value of pachymet-
ric measures of CCT in infantile glaucoma, though not completely
clarified, is nevertheless useful.
When examining the cornea, the ophthalmologist must look for
corneal haziness and tears of Descemet’s membrane. Tears involv-
ing the visual axis, as evident during retinoscopy, must be noted
because they can adversely affect a child’s visual acuity and con-
tribute to developing amblyopia.
Axial length measurement
The measurement of axial length by A-scan ultrasonography has
been recommended by some investigators for routine use in the
diagnosis and follow-up of congenital glaucoma, contending that
it is a sensitive and reversible measure of disease.
40,54–56
Others
assert that the corneal diameter measurement, besides being
easier to measure using simpler equipment, is the most significant
clinical feature in detecting congenital glaucoma.
39,57
One retro-
spective study suggests that the major contribution of both axial
measures and corneal diameters is in the initial diagnostic stages of
glaucoma management, but neither parameter distinguished which
patients would require re-operation, especially after the age of 2
years.
58
Table 19-3 Corneal diameters and axial lengths among normal eyes and eyes suspicious for glaucoma
Age Corneal diameters (mm) Axial length (mm)
Normal Possible glaucoma Normal Possible glaucoma
Newborns 9.5–10.5 11.5–12.0 16–17 20
1 year 10–11.5 12.0–12.5 20.1 22.5
2 years 11.5–12 12.5–13.0 21.3 23
3 years – – 22.1 24
3 years 12 13.0–14.0 23 25
Data from Morin
12
; Kiskis et al
39
; Sampaolesi & Caruso R
40
; Fledelius & Christensen.
41
Fig. 19-14 Congenital glaucoma
examination series. (A) Corneal
measurement. (B) View through a
Swan-Jacobs lens into the angle of a
child with primary infantile glaucoma.
(B from Alward WLM: Color atlas of
gonioscopy, San Francisco, 2000,
Foundation of American Academy of
Ophthalmology.)(A) (B)
side to the same point on the other side, from the 9 o’clock to 3
o’clock positions. This is then repeated vertically from 6 o’clock to
12 o’clock. The measurement is accurate to approximately 0.5 mm;
therefore with this technique, changes of less than 0.5 mm should
not be considered significant. Some authors prefer customized
templates in increments of 0.25 mm for greater precision.
28
The measurement of the central corneal thickness (CCT) of adult
eyes with primary open-angle glaucoma has a major impact on the
clinician’s assessment for two reasons: (1) applanation IOP readings
are profoundly affected by the CCT (viz., thicker CCTs ‘overesti-
mate’ and thinner CCTs ‘underestimate’ true IOPs), and (2) there
is a significant risk factor for developing glaucoma damage, inde-
pendent of IOP corrections, with thinner CCTs.
1–25,28–31,34–38,42–47
One confounding factor in applying CCT findings in children with
glaucoma is the apparent slight thickening of the infant cornea until
adult values are reached between age 5–9 years old.
48
Nevertheless, the clinical effect of CCT measures on the IOP in
children is similar to that seen in adults, with thicker corneas seen
with ocular hypertension and thinner CCTs on average among
black children than in whites.
49,49a,49b
One large study comparing
children under 3 years old – those status-post-congenital glaucoma
surgery versus age-related normals undergoing nasolacrimal dila-
tion – demonstrated thinner CCT measurements in glaucomatous
eyes, which positively correlated with their larger corneal diameters
and longer axial lengths.
50,50a
On the other hand, thick CCTs are
expected in eyes with significant corneal edema from elevated IOP, 302
PA RT
4 CLINICAL ENTITIES
and have been reported in eyes with glaucoma with aniridia
4,51
and in eyes status-post-congenital cataract surgery.
5,52
Although
examinations under anesthesia often require specula to pry the lids
for several minutes, with some possible corneal drying, the clinical
impact on CCT measures is negligible.
6,53
The value of pachymet-
ric measures of CCT in infantile glaucoma, though not completely
clarified, is nevertheless useful.
When examining the cornea, the ophthalmologist must look for
corneal haziness and tears of Descemet’s membrane. Tears involv-
ing the visual axis, as evident during retinoscopy, must be noted
because they can adversely affect a child’s visual acuity and con-
tribute to developing amblyopia.
Axial length measurement
The measurement of axial length by A-scan ultrasonography has
been recommended by some investigators for routine use in the
diagnosis and follow-up of congenital glaucoma, contending that
it is a sensitive and reversible measure of disease.
40,54–56
Others
assert that the corneal diameter measurement, besides being
easier to measure using simpler equipment, is the most significant
clinical feature in detecting congenital glaucoma.
39,57
One retro-
spective study suggests that the major contribution of both axial
measures and corneal diameters is in the initial diagnostic stages of
glaucoma management, but neither parameter distinguished which
patients would require re-operation, especially after the age of 2
years.
58
Table 19-3 Corneal diameters and axial lengths among normal eyes and eyes suspicious for glaucoma
Age Corneal diameters (mm) Axial length (mm)
Normal Possible glaucoma Normal Possible glaucoma
Newborns 9.5–10.5 11.5–12.0 16–17 20
1 year 10–11.5 12.0–12.5 20.1 22.5
2 years 11.5–12 12.5–13.0 21.3 23
3 years – – 22.1 24
3 years 12 13.0–14.0 23 25
Data from Morin
12
; Kiskis et al
39
; Sampaolesi & Caruso R
40
; Fledelius & Christensen.
41
Fig. 19-14 Congenital glaucoma
examination series. (A) Corneal
measurement. (B) View through a
Swan-Jacobs lens into the angle of a
child with primary infantile glaucoma.
(B from Alward WLM: Color atlas of
gonioscopy, San Francisco, 2000,
Foundation of American Academy of
Ophthalmology.)(A) (B)
side to the same point on the other side, from the 9 o’clock to 3
o’clock positions. This is then repeated vertically from 6 o’clock to
12 o’clock. The measurement is accurate to approximately 0.5 mm;
therefore with this technique, changes of less than 0.5 mm should
not be considered significant. Some authors prefer customized
templates in increments of 0.25 mm for greater precision.
28
The measurement of the central corneal thickness (CCT) of adult
eyes with primary open-angle glaucoma has a major impact on the
clinician’s assessment for two reasons: (1) applanation IOP readings
are profoundly affected by the CCT (viz., thicker CCTs ‘overesti-
mate’ and thinner CCTs ‘underestimate’ true IOPs), and (2) there
is a significant risk factor for developing glaucoma damage, inde-
pendent of IOP corrections, with thinner CCTs.
1–25,28–31,34–38,42–47
One confounding factor in applying CCT findings in children with
glaucoma is the apparent slight thickening of the infant cornea until
adult values are reached between age 5–9 years old.
48
Nevertheless, the clinical effect of CCT measures on the IOP in
children is similar to that seen in adults, with thicker corneas seen
with ocular hypertension and thinner CCTs on average among
black children than in whites.
49,49a,49b
One large study comparing
children under 3 years old – those status-post-congenital glaucoma
surgery versus age-related normals undergoing nasolacrimal dila-
tion – demonstrated thinner CCT measurements in glaucomatous
eyes, which positively correlated with their larger corneal diameters
and longer axial lengths.
50,50a
On the other hand, thick CCTs are
expected in eyes with significant corneal edema from elevated IOP,
CUP DISC RATIO
➤Normally <0.3 in children
➤With high IOP there is stretching of the optic
canal and back- ward bowing of the lamina
cribrosa, causing generalized cup enlargement.
➤With normalization of the IOP, there is either
reduction of CDR (due to reduced stretching
of the lamina cribrosa) or stabilization (Large
CDR due to glaucomatous optic nerve
damage).
➤This is the single most confiramatory sign
of the control or progression of glaucoma.
303
CHAPTER
19Developmental and childhood glaucoma
Gonioscopy
In the operating room, Koeppe equipment can be used under
clean but non-sterile conditions, such as during EUA (Fig. 19-15).
Gonioscopy has classically been performed with a smooth-domed
Koeppe 14- to 16-mm lens, with a Barkan light and hand-held
binocular microscope. If marked corneal clouding exists, the view
may be improved by applying topical anhydrous glycerin, or, if
necessary, removing the epithelium with a blade or with a solu-
tion of 70% alcohol or 10% cocaine on a cotton-tipped applicator.
The Koeppe lens also can aid in the visualization of the iris, the
crystalline lens, vitreous, and fundus. The lens neutralizes irregular
corneal reflexes and improves the view through a small pupil, even
allowing disc photography through a relatively small pupil. Thus the
examiner sees the entire optic nerve head (albeit minified) in one
field. Contemporary four-mirror lenses, whose corneal surface is
less than 12 mm, can alternatively be used in conjunction with an
operating microscope.
During surgery under the operating microscope, the surgeon can
use either a sterile Barkan operating lens (a truncated Koeppe lens)
for tangential viewing during insertion of a gonio-knife, or a gas-
sterilized four-mirror Sussman or Zeiss lens viewed perpendicu-
larly through the microscope.
Ophthalmoscopy
Cupping of the optic nerve is an early sign of increased pressure
and occurs much more quickly and at lower pressures in infants
than in older children and adults (Fig. 19-16). This characteristic of
dramatically enlarging – and after surgery, reversible – cup size in
children reflects the greater amount of elastin amidst the connective
tissue of the infantile optic nerve head, allowing an elastic response
to fluctuation in IOP (Fig. 19-17; see Fig. 13-6).
59
Decreased cup-
ping can occur rapidly after IOP reduction and is the single most
confirmatory sign that the glaucoma has been surgically stabilized
or reversed.
Cup-to-disc ratios greater than 0.3 mm are rare in healthy
infants and should cause suspicion of glaucoma (Table 19-4).
5,61,62
Inequality of optic nerve cupping greater than 0.2 cup-to-disc ratio
is also suggestive of glaucoma.
61
In infancy, the glaucomatous cup can be oval but is more often
round, steep-walled, and central, with notable circumferential
Fig. 19-15 Bilateral lens insertion of Koeppe lenses to
reveal angle abnormalities better seen by comparing both
eyes.
Fig. 19-16 Asymmetric disc cupping in a child with developmental
glaucoma. (A) Note steep-walled cup. This is typical of glaucomatous
cupping in the elastic infant eye. (B) The left eye has no cupping.
(A) (B)
Fig. 19-17 Child with isolated trabeculodysgenesis. (A) Before goniotomy.
(B) After goniotomy. Note the reduction in cup size, which is common
following successful surgery during the first 1–2 years of life.
(A) (B)
303
CHAPTER
19Developmental and childhood glaucoma
Gonioscopy
In the operating room, Koeppe equipment can be used under
clean but non-sterile conditions, such as during EUA (Fig. 19-15).
Gonioscopy has classically been performed with a smooth-domed
Koeppe 14- to 16-mm lens, with a Barkan light and hand-held
binocular microscope. If marked corneal clouding exists, the view
may be improved by applying topical anhydrous glycerin, or, if
necessary, removing the epithelium with a blade or with a solu-
tion of 70% alcohol or 10% cocaine on a cotton-tipped applicator.
The Koeppe lens also can aid in the visualization of the iris, the
crystalline lens, vitreous, and fundus. The lens neutralizes irregular
corneal reflexes and improves the view through a small pupil, even
allowing disc photography through a relatively small pupil. Thus the
examiner sees the entire optic nerve head (albeit minified) in one
field. Contemporary four-mirror lenses, whose corneal surface is
less than 12 mm, can alternatively be used in conjunction with an
operating microscope.
During surgery under the operating microscope, the surgeon can
use either a sterile Barkan operating lens (a truncated Koeppe lens)
for tangential viewing during insertion of a gonio-knife, or a gas-
sterilized four-mirror Sussman or Zeiss lens viewed perpendicu-
larly through the microscope.
Ophthalmoscopy
Cupping of the optic nerve is an early sign of increased pressure
and occurs much more quickly and at lower pressures in infants
than in older children and adults (Fig. 19-16). This characteristic of
dramatically enlarging – and after surgery, reversible – cup size in
children reflects the greater amount of elastin amidst the connective
tissue of the infantile optic nerve head, allowing an elastic response
to fluctuation in IOP (Fig. 19-17; see Fig. 13-6).
59
Decreased cup-
ping can occur rapidly after IOP reduction and is the single most
confirmatory sign that the glaucoma has been surgically stabilized
or reversed.
Cup-to-disc ratios greater than 0.3 mm are rare in healthy
infants and should cause suspicion of glaucoma (Table 19-4).
5,61,62
Inequality of optic nerve cupping greater than 0.2 cup-to-disc ratio
is also suggestive of glaucoma.
61
In infancy, the glaucomatous cup can be oval but is more often
round, steep-walled, and central, with notable circumferential
Fig. 19-15 Bilateral lens insertion of Koeppe lenses to
reveal angle abnormalities better seen by comparing both
eyes.
Fig. 19-16 Asymmetric disc cupping in a child with developmental
glaucoma. (A) Note steep-walled cup. This is typical of glaucomatous
cupping in the elastic infant eye. (B) The left eye has no cupping.
(A) (B)
Fig. 19-17 Child with isolated trabeculodysgenesis. (A) Before goniotomy.
(B) After goniotomy. Note the reduction in cup size, which is common
following successful surgery during the first 1–2 years of life.
(A) (B)
➤Normally <0.3 in children
➤With high IOP there is stretching of the optic
canal and back- ward bowing of the lamina
cribrosa, causing generalized cup enlargement.
➤With normalization of the IOP, there is either
reduction of CDR (due to reduced stretching
of the lamina cribrosa) or stabilization (Large
CDR due to glaucomatous optic nerve
damage).
➤This is the single most confiramatory sign
of the control or progression of glaucoma.
303
CHAPTER
19Developmental and childhood glaucoma
Gonioscopy
In the operating room, Koeppe equipment can be used under
clean but non-sterile conditions, such as during EUA (Fig. 19-15).
Gonioscopy has classically been performed with a smooth-domed
Koeppe 14- to 16-mm lens, with a Barkan light and hand-held
binocular microscope. If marked corneal clouding exists, the view
may be improved by applying topical anhydrous glycerin, or, if
necessary, removing the epithelium with a blade or with a solu-
tion of 70% alcohol or 10% cocaine on a cotton-tipped applicator.
The Koeppe lens also can aid in the visualization of the iris, the
crystalline lens, vitreous, and fundus. The lens neutralizes irregular
corneal reflexes and improves the view through a small pupil, even
allowing disc photography through a relatively small pupil. Thus the
examiner sees the entire optic nerve head (albeit minified) in one
field. Contemporary four-mirror lenses, whose corneal surface is
less than 12 mm, can alternatively be used in conjunction with an
operating microscope.
During surgery under the operating microscope, the surgeon can
use either a sterile Barkan operating lens (a truncated Koeppe lens)
for tangential viewing during insertion of a gonio-knife, or a gas-
sterilized four-mirror Sussman or Zeiss lens viewed perpendicu-
larly through the microscope.
Ophthalmoscopy
Cupping of the optic nerve is an early sign of increased pressure
and occurs much more quickly and at lower pressures in infants
than in older children and adults (Fig. 19-16). This characteristic of
dramatically enlarging – and after surgery, reversible – cup size in
children reflects the greater amount of elastin amidst the connective
tissue of the infantile optic nerve head, allowing an elastic response
to fluctuation in IOP (Fig. 19-17; see Fig. 13-6).
59
Decreased cup-
ping can occur rapidly after IOP reduction and is the single most
confirmatory sign that the glaucoma has been surgically stabilized
or reversed.
Cup-to-disc ratios greater than 0.3 mm are rare in healthy
infants and should cause suspicion of glaucoma (Table 19-4).
5,61,62
Inequality of optic nerve cupping greater than 0.2 cup-to-disc ratio
is also suggestive of glaucoma.
61
In infancy, the glaucomatous cup can be oval but is more often
round, steep-walled, and central, with notable circumferential
Fig. 19-15 Bilateral lens insertion of Koeppe lenses to
reveal angle abnormalities better seen by comparing both
eyes.
Fig. 19-16 Asymmetric disc cupping in a child with developmental
glaucoma. (A) Note steep-walled cup. This is typical of glaucomatous
cupping in the elastic infant eye. (B) The left eye has no cupping.
(A) (B)
Fig. 19-17 Child with isolated trabeculodysgenesis. (A) Before goniotomy.
(B) After goniotomy. Note the reduction in cup size, which is common
following successful surgery during the first 1–2 years of life.
(A) (B)
303
CHAPTER
19Developmental and childhood glaucoma
Gonioscopy
In the operating room, Koeppe equipment can be used under
clean but non-sterile conditions, such as during EUA (Fig. 19-15).
Gonioscopy has classically been performed with a smooth-domed
Koeppe 14- to 16-mm lens, with a Barkan light and hand-held
binocular microscope. If marked corneal clouding exists, the view
may be improved by applying topical anhydrous glycerin, or, if
necessary, removing the epithelium with a blade or with a solu-
tion of 70% alcohol or 10% cocaine on a cotton-tipped applicator.
The Koeppe lens also can aid in the visualization of the iris, the
crystalline lens, vitreous, and fundus. The lens neutralizes irregular
corneal reflexes and improves the view through a small pupil, even
allowing disc photography through a relatively small pupil. Thus the
examiner sees the entire optic nerve head (albeit minified) in one
field. Contemporary four-mirror lenses, whose corneal surface is
less than 12 mm, can alternatively be used in conjunction with an
operating microscope.
During surgery under the operating microscope, the surgeon can
use either a sterile Barkan operating lens (a truncated Koeppe lens)
for tangential viewing during insertion of a gonio-knife, or a gas-
sterilized four-mirror Sussman or Zeiss lens viewed perpendicu-
larly through the microscope.
Ophthalmoscopy
Cupping of the optic nerve is an early sign of increased pressure
and occurs much more quickly and at lower pressures in infants
than in older children and adults (Fig. 19-16). This characteristic of
dramatically enlarging – and after surgery, reversible – cup size in
children reflects the greater amount of elastin amidst the connective
tissue of the infantile optic nerve head, allowing an elastic response
to fluctuation in IOP (Fig. 19-17; see Fig. 13-6).
59
Decreased cup-
ping can occur rapidly after IOP reduction and is the single most
confirmatory sign that the glaucoma has been surgically stabilized
or reversed.
Cup-to-disc ratios greater than 0.3 mm are rare in healthy
infants and should cause suspicion of glaucoma (Table 19-4).
5,61,62
Inequality of optic nerve cupping greater than 0.2 cup-to-disc ratio
is also suggestive of glaucoma.
61
In infancy, the glaucomatous cup can be oval but is more often
round, steep-walled, and central, with notable circumferential
Fig. 19-15 Bilateral lens insertion of Koeppe lenses to
reveal angle abnormalities better seen by comparing both
eyes.
Fig. 19-16 Asymmetric disc cupping in a child with developmental
glaucoma. (A) Note steep-walled cup. This is typical of glaucomatous
cupping in the elastic infant eye. (B) The left eye has no cupping.
(A) (B)
Fig. 19-17 Child with isolated trabeculodysgenesis. (A) Before goniotomy.
(B) After goniotomy. Note the reduction in cup size, which is common
following successful surgery during the first 1–2 years of life.
(A) (B)
CYCLOPLEGIC REFRACTION
➤Very important for primary congenital glaucoma.
➤Refractive errors are very common especially in unilateral
cases of primary congenital glaucoma.
➤Very important for primary congenital glaucoma.
➤Refractive errors are very common especially in unilateral
cases of primary congenital glaucoma.
NATURAL HISTORY
➤If untreated:
➤Cornea and globe continues to enlarge giving the
appearance of pseudoproptosis (ox eyes; buphthalmos).
➤The cornea opacifies and become vascularized
➤The sclera thins out
➤There might be spontaneous lens dislocation
➤Optic atrophy
➤Blindness
➤If untreated:
➤Cornea and globe continues to enlarge giving the
appearance of pseudoproptosis (ox eyes; buphthalmos).
➤The cornea opacifies and become vascularized
➤The sclera thins out
➤There might be spontaneous lens dislocation
➤Optic atrophy
➤Blindness
MANAGEMENT
➤Surgical
➤Angle surgery is preferred
➤Goniotomy if <3 years old and clear cornea
➤Trabeculotomy if >3 years and opaque cornea
➤Combined with trabeculectomy
➤2nd option is glaucoma valve surgery
➤Cyclodestructive procedures can be resorted to in resistant
cases and blind eyes.
➤Surgical
➤Angle surgery is preferred
➤Goniotomy if <3 years old and clear cornea
➤Trabeculotomy if >3 years and opaque cornea
➤Combined with trabeculectomy
➤2nd option is glaucoma valve surgery
➤Cyclodestructive procedures can be resorted to in resistant
cases and blind eyes.
MANAGEMENT
➤Medical management
288 • Pediatric Ophthalmology and Strabismus
Table 22-3 Systemic and Ocular Risks of Glaucoma Medications in Children
Drugs
antagonists
Betaxolol hydrochloride,
carteolol, levobunolol,
metipranolol, timolol
hemihydrate, timolol
maleate
Prostaglandin analogues
Bimatoprost,
latanoprost,
tafluprost, travoprost
a
2-Adrenergic agonists
Apraclonidine,
brimonidine
Risks
Hypotension, bradycardia,
bronchospasm, apnea
Hallucinations
Masking of hypoglycemia in
diabetic children
May exacerbate uveitis
Risk of retinal detachment in
Sturge-Weber syndrome
Low systemic risk. Possible
sleep disturbance or
exacerbation of asthma
Apraclonidine: tachyphylaxis,
allergy
Apraclonidine and brimonidine:
hypotension, bradycardia,
hypothermia, central nervous
system depression, coma
Risks are greater for brimonidine
Topical carbonic anhydrase inhibitors
Brinzolamide, Metabolic acidosis (rare)
dorzolamide Stevens-Johnson syndrome
Corneal edema
Oral carbonic anhydrase inhibitors
Acetazolamide, Metabolic acidosis
methazolamide Stevens-Johnson syndrome
Aplastic anemia (reported in
adults)
Headaches, nausea, dizziness,
paresthesias
Growth suppression, failure to
thrive, weight loss
Bed-wetting
Parasympathomimetic agents (miotics)
Echothiophate, Pilocarpine: bronchospasm,
pilocarpine hypertension, vomiting,
diarrhea, dizziness,
weakness, headache
Echothiophate: diarrhea,
urinary incontinence, cardiac
arrhythmia, weakness,
headache, fatigue, iris cysts
Risk of pupillary block
Paradoxical rise in intraocular
pressure
Precautions
Avoid in premature or small infants
Use with caution in infants, children
with asthma, cardiac disease
Select lower concentrations
Use punctal occlusion
Consider cardioselective
to reduce risk of bronchospasm
Avoid in uveitis
Use caution following intraocular
surgery
Brimonidine contraindicated in
children <2 years of age
Caution in children <10 years of age
or <20 kg
Use low dosage
Avoid with cardiovascular disease,
hepatic or renal impairment
Contraindicated in infants with
renal insufficiency
Contraindicated in sulfonamide
hypersensitivity
Monitor infant feeding and weight
gain
Caution in corneal disease
Contraindicated in renal
insufficiency, hypokalemia,
hyponatremia
Contraindicated in sulfonamide
hypersensitivity
Monitor for metabolic acidosis
Monitor infant feeding and weight
gain
Avoid in uveitis
Caution in cardiac disease, asthma,
urinary tract obstruction
Limit dosage and use lower
concentrations
Echothiophate: avoid
succinylcholine
➤Medical management
288 • Pediatric Ophthalmology and Strabismus
Table 22-3 Systemic and Ocular Risks of Glaucoma Medications in Children
Drugs
antagonists
Betaxolol hydrochloride,
carteolol, levobunolol,
metipranolol, timolol
hemihydrate, timolol
maleate
Prostaglandin analogues
Bimatoprost,
latanoprost,
tafluprost, travoprost
a
2-Adrenergic agonists
Apraclonidine,
brimonidine
Risks
Hypotension, bradycardia,
bronchospasm, apnea
Hallucinations
Masking of hypoglycemia in
diabetic children
May exacerbate uveitis
Risk of retinal detachment in
Sturge-Weber syndrome
Low systemic risk. Possible
sleep disturbance or
exacerbation of asthma
Apraclonidine: tachyphylaxis,
allergy
Apraclonidine and brimonidine:
hypotension, bradycardia,
hypothermia, central nervous
system depression, coma
Risks are greater for brimonidine
Topical carbonic anhydrase inhibitors
Brinzolamide, Metabolic acidosis (rare)
dorzolamide Stevens-Johnson syndrome
Corneal edema
Oral carbonic anhydrase inhibitors
Acetazolamide, Metabolic acidosis
methazolamide Stevens-Johnson syndrome
Aplastic anemia (reported in
adults)
Headaches, nausea, dizziness,
paresthesias
Growth suppression, failure to
thrive, weight loss
Bed-wetting
Parasympathomimetic agents (miotics)
Echothiophate, Pilocarpine: bronchospasm,
pilocarpine hypertension, vomiting,
diarrhea, dizziness,
weakness, headache
Echothiophate: diarrhea,
urinary incontinence, cardiac
arrhythmia, weakness,
headache, fatigue, iris cysts
Risk of pupillary block
Paradoxical rise in intraocular
pressure
Precautions
Avoid in premature or small infants
Use with caution in infants, children
with asthma, cardiac disease
Select lower concentrations
Use punctal occlusion
Consider cardioselective
to reduce risk of bronchospasm
Avoid in uveitis
Use caution following intraocular
surgery
Brimonidine contraindicated in
children <2 years of age
Caution in children <10 years of age
or <20 kg
Use low dosage
Avoid with cardiovascular disease,
hepatic or renal impairment
Contraindicated in infants with
renal insufficiency
Contraindicated in sulfonamide
hypersensitivity
Monitor infant feeding and weight
gain
Caution in corneal disease
Contraindicated in renal
insufficiency, hypokalemia,
hyponatremia
Contraindicated in sulfonamide
hypersensitivity
Monitor for metabolic acidosis
Monitor infant feeding and weight
gain
Avoid in uveitis
Caution in cardiac disease, asthma,
urinary tract obstruction
Limit dosage and use lower
concentrations
Echothiophate: avoid
succinylcholine
REFERENCES
➤AAO BSCS 2015
➤Becker -Shaffer
➤Anderson DR: The development of the trabecular meshwork
and its abnormality in primary infantile glaucoma,Trans Am
Ophthalmol Soc 79:458, 1981.
➤AAO BSCS 2015
➤Becker -Shaffer
➤Anderson DR: The development of the trabecular meshwork
and its abnormality in primary infantile glaucoma,Trans Am
Ophthalmol Soc 79:458, 1981.
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